| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000399655(MANE Select) | CACNA1C | Deleterious | 60|40 | simple_ | No | Single base exchange | Normal |
| |||||
| CACNA1C | Deleterious | 74|26 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 74|26 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 76|24 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 76|24 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 76|24 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 77|23 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 77|23 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 77|23 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
ENST00000399603(MANE Select) | CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| |||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 78|22 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 79|21 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 79|21 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 79|21 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 79|21 | simple_ | No | Single base exchange | Normal |
| ||||||
| CACNA1C | Deleterious | 79|21 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||
| Gene constraints | LOEUF: 0.19, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000399655.6 | ||||||||||||||||
| Genbank transcript ID | NM_000719 (exact from MANE) | ||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.6040G>A g.717931G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 12 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | ||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPISLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6417 / 6417 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2139 / 2139 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6993 / 6993 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 577 / 577 | ||||||||||||||||
| Last intron/exon boundary | 6693 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 6066 | ||||||||||||||||
| Length of CDS | 6417 | ||||||||||||||||
| Coding sequence (CDS) position | 6040 | ||||||||||||||||
| cDNA position | 6616 | ||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||
| Speed | 0.06 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||
| Gene symbol | CACNA1C | |||||||||||||
| Gene constraints | LOEUF: 0.22, LOF (oe): 0.16, misssense (oe): 0.62, synonymous (oe): 1.01 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000406454.8 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.6253G>A g.717931G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRMHCCD MLDGGTFPPA LGPRRAPPCL HQQLQGSLAG LREDTPCIVP GHASLCCSSR VGEWLPAGCT APQHARCHSR ESQAAMAGQE ETSQDETYEV KMNHDTEACS EPSLLSTEML SYQDDENRQL TLPEEDKRDI RQSPKRGFLR SASLGRRASF HLECLKRQKD RGGDISQKTV LPLHLVHHQA LAVAGLSPLL QRSHSPASFP RPFATPPATP GSRGWPPQPV PTLRLEGVES SEKLNSSFPS IHCGSWAETT PGGGGSSAAR RVRPVSLMVP SQAGAPGRQF HGSASSLVEA VLISEGLGQF AQDPKFIEVT TQELADACDM TIEEMESAAD NILSGGAPQS PNGALLPFVN CRDAGQDRAG GEEDAGCVRA RGRPSEEELQ DSRVYVSSL* | |||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRMHCCD MLDGGTFPPA LGPRRAPPCL HQQLQGSLAG LREDTPCIVP GHASLCCSSR VGEWLPAGCT APQHARCHSR ESQAAMAGQE ETSQDETYEV KMNHDTEACS EPSLLSTEML SYQDDENRQL TLPEEDKRDI RQSPKRGFLR SASLGRRASF HLECLKRQKD RGGDISQKTV LPLHLVHHQA LAVAGLSPLL QRSHSPASFP RPFATPPATP GSRGWPPQPV PTLRLEGVES SEKLNSSFPS IHCGSWAETT PGGGGSSAAR RVRPISLMVP SQAGAPGRQF HGSASSLVEA VLISEGLGQF AQDPKFIEVT TQELADACDM TIEEMESAAD NILSGGAPQS PNGALLPFVN CRDAGQDRAG GEEDAGCVRA RGRPSEEELQ DSRVYVSSL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6630 / 6630 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2210 / 2210 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 7206 / 7206 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 577 / 577 | |||||||||||||
| Last intron/exon boundary | 6906 | |||||||||||||
| Theoretical NMD boundary in CDS | 6279 | |||||||||||||
| Length of CDS | 6630 | |||||||||||||
| Coding sequence (CDS) position | 6253 | |||||||||||||
| cDNA position | 6829 | |||||||||||||
| gDNA position | 717931 | |||||||||||||
| Chromosomal position | 2688702 | |||||||||||||
| Speed | 0.06 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||||||||||
| Gene symbol | CACNA1C | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.21, LOF (oe): 0.15, misssense (oe): 0.61, synonymous (oe): 1.00 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000344100.7 | |||||||||||||||||||||
| Genbank transcript ID | NM_001129829 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.6163G>A g.717931G>A | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | N/A | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 12 | |||||||||||||||||||||
| Strand | 1 | |||||||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMGPSCS HPPLAVLTAP PVADGFQNAE ENSRISITFF RLFRVMRLVK LLSRGEGIRT LLWTFIKSFQ ALPYVALLIV MLFFIYAVIG MQVFGKIALN DTTEINRNNN FQTFPQAVLL LFRCATGEAW QDIMLACMPG KKCAPESEPS NSTEGETPCG SSFAVFYFIS FYMLCAFLII NLFVAVIMDN FDYLTRDWSI LGPHHLDEFK RIWAEYDPEA KGRIKHLDVV TLLRRIQPPL GFGKLCPHRV ACKRLVSMNM PLNSDGTVMF NATLFALVRT ALRIKTEEGP SPSEAHQGAE DPFRPAGNLE QANEELRAII KKIWKRTSMK LLDQVVPPAG DDEVTVGKFY ATFLIQEYFR KFKKRKEQGL VGKPSQRNAL SLQAGLRTLH DIGPEIRRAI SGDLTAEEEL DKAMKEAVSA ASEDDIFRRA GGLFGNHVSY YQSDGRSAFP QTFTTQRPLH INKAGSSQGD TESPSHEKLV DSTFTPSSYS STGSNANINN ANNTALGRLP RPAGYPSTVS TVEGHGPPLS PAIRVQEVAW KLSSNRCHSR ESQAAMAGQE ETSQDETYEV KMNHDTEACS EPSLLSTEML SYQDDENRQL TLPEEDKRDI RQSPKRGFLR SASLGRRASF HLECLKRQKD RGGDISQKTV LPLHLVHHQA LAVAGLSPLL QRSHSPASFP RPFATPPATP GSRGWPPQPV PTLRLEGVES SEKLNSSFPS IHCGSWAETT PGGGGSSAAR RVRPVSLMVP SQAGAPGRQF HGSASSLVEA VLISEGLGQF AQDPKFIEVT TQELADACDM TIEEMESAAD NILSGGAPQS PNGALLPFVN CRDAGQDRAG GEEDAGCVRA RGRPSEEELQ DSRVYVSSL* | |||||||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMGPSCS HPPLAVLTAP PVADGFQNAE ENSRISITFF RLFRVMRLVK LLSRGEGIRT LLWTFIKSFQ ALPYVALLIV MLFFIYAVIG MQVFGKIALN DTTEINRNNN FQTFPQAVLL LFRCATGEAW QDIMLACMPG KKCAPESEPS NSTEGETPCG SSFAVFYFIS FYMLCAFLII NLFVAVIMDN FDYLTRDWSI LGPHHLDEFK RIWAEYDPEA KGRIKHLDVV TLLRRIQPPL GFGKLCPHRV ACKRLVSMNM PLNSDGTVMF NATLFALVRT ALRIKTEEGP SPSEAHQGAE DPFRPAGNLE QANEELRAII KKIWKRTSMK LLDQVVPPAG DDEVTVGKFY ATFLIQEYFR KFKKRKEQGL VGKPSQRNAL SLQAGLRTLH DIGPEIRRAI SGDLTAEEEL DKAMKEAVSA ASEDDIFRRA GGLFGNHVSY YQSDGRSAFP QTFTTQRPLH INKAGSSQGD TESPSHEKLV DSTFTPSSYS STGSNANINN ANNTALGRLP RPAGYPSTVS TVEGHGPPLS PAIRVQEVAW KLSSNRCHSR ESQAAMAGQE ETSQDETYEV KMNHDTEACS EPSLLSTEML SYQDDENRQL TLPEEDKRDI RQSPKRGFLR SASLGRRASF HLECLKRQKD RGGDISQKTV LPLHLVHHQA LAVAGLSPLL QRSHSPASFP RPFATPPATP GSRGWPPQPV PTLRLEGVES SEKLNSSFPS IHCGSWAETT PGGGGSSAAR RVRPISLMVP SQAGAPGRQF HGSASSLVEA VLISEGLGQF AQDPKFIEVT TQELADACDM TIEEMESAAD NILSGGAPQS PNGALLPFVN CRDAGQDRAG GEEDAGCVRA RGRPSEEELQ DSRVYVSSL* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6540 / 6540 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2180 / 2180 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6540 / 6540 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||||||||||
| Last intron/exon boundary | 6240 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 6189 | |||||||||||||||||||||
| Length of CDS | 6540 | |||||||||||||||||||||
| Coding sequence (CDS) position | 6163 | |||||||||||||||||||||
| cDNA position | 6163 | |||||||||||||||||||||
| gDNA position | 717931 | |||||||||||||||||||||
| Chromosomal position | 2688702 | |||||||||||||||||||||
| Speed | 0.06 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||
| Gene symbol | CACNA1C | |||||||||||||
| Gene constraints | LOEUF: 0.22, LOF (oe): 0.16, misssense (oe): 0.61, synonymous (oe): 1.01 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000399634.6 | |||||||||||||
| Genbank transcript ID | NM_001167625 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.6220G>A g.717931G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNNAEENS RISITFFRLF RVMRLVKLLS RGEGIRTLLW TFIKSFQALP YVALLIVMLF FIYAVIGMQV FGKIALNDTT EINRNNNFQT FPQAVLLLFR CATGEAWQDI MLACMPGKKC APESEPSNST EGETPCGSSF AVFYFISFYM LCAFLIINLF VAVIMDNFDY LTRDWSILGP HHLDEFKRIW AEYDPEAKGR IKHLDVVTLL RRIQPPLGFG KLCPHRVACK RLVSMNMPLN SDGTVMFNAT LFALVRTALR IKTEGNLEQA NEELRAIIKK IWKRTSMKLL DQVVPPAGDD EVTVGKFYAT FLIQEYFRKF KKRKEQGLVG KPSQRNALSL QAGLRTLHDI GPEIRRAISG DLTAEEELDK AMKEAVSAAS EDDIFRRAGG LFGNHVSYYQ SDGRSAFPQT FTTQRPLHIN KAGSSQGDTE SPSHEKLVDS TFTPSSYSST GSNANINNAN NTALGRLPRP AGYPSTVSTV EGHGPPLSPA IRVQEVAWKL SSNRMHCCDM LDGGTFPPAL GPRRAPPCLH QQLQGSLAGL REDTPCIVPG HASLCCSSRV GEWLPAGCTA PQHARCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | |||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNNAEENS RISITFFRLF RVMRLVKLLS RGEGIRTLLW TFIKSFQALP YVALLIVMLF FIYAVIGMQV FGKIALNDTT EINRNNNFQT FPQAVLLLFR CATGEAWQDI MLACMPGKKC APESEPSNST EGETPCGSSF AVFYFISFYM LCAFLIINLF VAVIMDNFDY LTRDWSILGP HHLDEFKRIW AEYDPEAKGR IKHLDVVTLL RRIQPPLGFG KLCPHRVACK RLVSMNMPLN SDGTVMFNAT LFALVRTALR IKTEGNLEQA NEELRAIIKK IWKRTSMKLL DQVVPPAGDD EVTVGKFYAT FLIQEYFRKF KKRKEQGLVG KPSQRNALSL QAGLRTLHDI GPEIRRAISG DLTAEEELDK AMKEAVSAAS EDDIFRRAGG LFGNHVSYYQ SDGRSAFPQT FTTQRPLHIN KAGSSQGDTE SPSHEKLVDS TFTPSSYSST GSNANINNAN NTALGRLPRP AGYPSTVSTV EGHGPPLSPA IRVQEVAWKL SSNRMHCCDM LDGGTFPPAL GPRRAPPCLH QQLQGSLAGL REDTPCIVPG HASLCCSSRV GEWLPAGCTA PQHARCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPISLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6597 / 6597 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2199 / 2199 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 7173 / 7173 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 577 / 577 | |||||||||||||
| Last intron/exon boundary | 6873 | |||||||||||||
| Theoretical NMD boundary in CDS | 6246 | |||||||||||||
| Length of CDS | 6597 | |||||||||||||
| Coding sequence (CDS) position | 6220 | |||||||||||||
| cDNA position | 6796 | |||||||||||||
| gDNA position | 717931 | |||||||||||||
| Chromosomal position | 2688702 | |||||||||||||
| Speed | 0.06 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||
| Gene constraints | LOEUF: 0.20, LOF (oe): 0.14, misssense (oe): 0.60, synonymous (oe): 0.99 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000399595.5 | ||||||||||||||||
| Genbank transcript ID | NM_001129837 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.6064G>A g.717931G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 12 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNNAEENS RISITFFRLF RVMRLVKLLS RGEGIRTLLW TFIKSFQALP YVALLIVMLF FIYAVIGMQV FGKIALNDTT EINRNNNFQT FPQAVLLLFR CATGEAWQDI MLACMPGKKC APESEPSNST EGETPCGSSF AVFYFISFYM LCAFLIINLF VAVIMDNFDY LTRDWSILGP HHLDEFKRIW AEYDPEAKGR IKHLDVVTLL RRIQPPLGFG KLCPHRVACK RLVSMNMPLN SDGTVMFNAT LFALVRTALR IKTEEGPSPS EAHQGAEDPF RPAGNLEQAN EELRAIIKKI WKRTSMKLLD QVVPPAGDDE VTVGKFYATF LIQEYFRKFK KRKEQGLVGK PSQRNALSLQ AGLRTLHDIG PEIRRAISGD LTAEEELDKA MKEAVSAASE DDIFRRAGGL FGNHVSYYQS DGRSAFPQTF TTQRPLHINK AGSSQGDTES PSHEKLVDST FTPSSYSSTG SNANINNANN TALGRLPRPA GYPSTVSTVE GHGPPLSPAI RVQEVAWKLS SNRCHSRESQ AAMAGQEETS QDETYEVKMN HDTEACSEPS LLSTEMLSYQ DDENRQLTLP EEDKRDIRQS PKRGFLRSAS LGRRASFHLE CLKRQKDRGG DISQKTVLPL HLVHHQALAV AGLSPLLQRS HSPASFPRPF ATPPATPGSR GWPPQPVPTL RLEGVESSEK LNSSFPSIHC GSWAETTPGG GGSSAARRVR PVSLMVPSQA GAPGRQFHGS ASSLVEAVLI SEGLGQFAQD PKFIEVTTQE LADACDMTIE EMESAADNIL SGGAPQSPNG ALLPFVNCRD AGQDRAGGEE DAGCVRARGR PSEEELQDSR VYVSSL* | ||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNNAEENS RISITFFRLF RVMRLVKLLS RGEGIRTLLW TFIKSFQALP YVALLIVMLF FIYAVIGMQV FGKIALNDTT EINRNNNFQT FPQAVLLLFR CATGEAWQDI MLACMPGKKC APESEPSNST EGETPCGSSF AVFYFISFYM LCAFLIINLF VAVIMDNFDY LTRDWSILGP HHLDEFKRIW AEYDPEAKGR IKHLDVVTLL RRIQPPLGFG KLCPHRVACK RLVSMNMPLN SDGTVMFNAT LFALVRTALR IKTEEGPSPS EAHQGAEDPF RPAGNLEQAN EELRAIIKKI WKRTSMKLLD QVVPPAGDDE VTVGKFYATF LIQEYFRKFK KRKEQGLVGK PSQRNALSLQ AGLRTLHDIG PEIRRAISGD LTAEEELDKA MKEAVSAASE DDIFRRAGGL FGNHVSYYQS DGRSAFPQTF TTQRPLHINK AGSSQGDTES PSHEKLVDST FTPSSYSSTG SNANINNANN TALGRLPRPA GYPSTVSTVE GHGPPLSPAI RVQEVAWKLS SNRCHSRESQ AAMAGQEETS QDETYEVKMN HDTEACSEPS LLSTEMLSYQ DDENRQLTLP EEDKRDIRQS PKRGFLRSAS LGRRASFHLE CLKRQKDRGG DISQKTVLPL HLVHHQALAV AGLSPLLQRS HSPASFPRPF ATPPATPGSR GWPPQPVPTL RLEGVESSEK LNSSFPSIHC GSWAETTPGG GGSSAARRVR PISLMVPSQA GAPGRQFHGS ASSLVEAVLI SEGLGQFAQD PKFIEVTTQE LADACDMTIE EMESAADNIL SGGAPQSPNG ALLPFVNCRD AGQDRAGGEE DAGCVRARGR PSEEELQDSR VYVSSL* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6441 / 6441 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2147 / 2147 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6441 / 6441 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||
| Last intron/exon boundary | 6141 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 6090 | ||||||||||||||||
| Length of CDS | 6441 | ||||||||||||||||
| Coding sequence (CDS) position | 6064 | ||||||||||||||||
| cDNA position | 6064 | ||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||
| Speed | 0.05 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||
| Gene constraints | LOEUF: 0.20, LOF (oe): 0.14, misssense (oe): 0.60, synonymous (oe): 0.99 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000399649.5 | ||||||||||||||||
| Genbank transcript ID | NM_001129839 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.6058G>A g.717931G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 12 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TENAEENSRI SITFFRLFRV MRLVKLLSRG EGIRTLLWTF IKSFQALPYV ALLIVMLFFI YAVIGMQVFG KIALNDTTEI NRNNNFQTFP QAVLLLFRCA TGEAWQDIML ACMPGKKCAP ESEPSNSTEG ETPCGSSFAV FYFISFYMLC AFLIINLFVA VIMDNFDYLT RDWSILGPHH LDEFKRIWAE YDPEAKGRIK HLDVVTLLRR IQPPLGFGKL CPHRVACKRL VSMNMPLNSD GTVMFNATLF ALVRTALRIK TEEGPSPSEA HQGAEDPFRP AGNLEQANEE LRAIIKKIWK RTSMKLLDQV VPPAGDDEVT VGKFYATFLI QEYFRKFKKR KEQGLVGKPS QRNALSLQAG LRTLHDIGPE IRRAISGDLT AEEELDKAMK EAVSAASEDD IFRRAGGLFG NHVSYYQSDG RSAFPQTFTT QRPLHINKAG SSQGDTESPS HEKLVDSTFT PSSYSSTGSN ANINNANNTA LGRLPRPAGY PSTVSTVEGH GPPLSPAIRV QEVAWKLSSN RCHSRESQAA MAGQEETSQD ETYEVKMNHD TEACSEPSLL STEMLSYQDD ENRQLTLPEE DKRDIRQSPK RGFLRSASLG RRASFHLECL KRQKDRGGDI SQKTVLPLHL VHHQALAVAG LSPLLQRSHS PASFPRPFAT PPATPGSRGW PPQPVPTLRL EGVESSEKLN SSFPSIHCGS WAETTPGGGG SSAARRVRPV SLMVPSQAGA PGRQFHGSAS SLVEAVLISE GLGQFAQDPK FIEVTTQELA DACDMTIEEM ESAADNILSG GAPQSPNGAL LPFVNCRDAG QDRAGGEEDA GCVRARGRPS EEELQDSRVY VSSL* | ||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TENAEENSRI SITFFRLFRV MRLVKLLSRG EGIRTLLWTF IKSFQALPYV ALLIVMLFFI YAVIGMQVFG KIALNDTTEI NRNNNFQTFP QAVLLLFRCA TGEAWQDIML ACMPGKKCAP ESEPSNSTEG ETPCGSSFAV FYFISFYMLC AFLIINLFVA VIMDNFDYLT RDWSILGPHH LDEFKRIWAE YDPEAKGRIK HLDVVTLLRR IQPPLGFGKL CPHRVACKRL VSMNMPLNSD GTVMFNATLF ALVRTALRIK TEEGPSPSEA HQGAEDPFRP AGNLEQANEE LRAIIKKIWK RTSMKLLDQV VPPAGDDEVT VGKFYATFLI QEYFRKFKKR KEQGLVGKPS QRNALSLQAG LRTLHDIGPE IRRAISGDLT AEEELDKAMK EAVSAASEDD IFRRAGGLFG NHVSYYQSDG RSAFPQTFTT QRPLHINKAG SSQGDTESPS HEKLVDSTFT PSSYSSTGSN ANINNANNTA LGRLPRPAGY PSTVSTVEGH GPPLSPAIRV QEVAWKLSSN RCHSRESQAA MAGQEETSQD ETYEVKMNHD TEACSEPSLL STEMLSYQDD ENRQLTLPEE DKRDIRQSPK RGFLRSASLG RRASFHLECL KRQKDRGGDI SQKTVLPLHL VHHQALAVAG LSPLLQRSHS PASFPRPFAT PPATPGSRGW PPQPVPTLRL EGVESSEKLN SSFPSIHCGS WAETTPGGGG SSAARRVRPI SLMVPSQAGA PGRQFHGSAS SLVEAVLISE GLGQFAQDPK FIEVTTQELA DACDMTIEEM ESAADNILSG GAPQSPNGAL LPFVNCRDAG QDRAGGEEDA GCVRARGRPS EEELQDSRVY VSSL* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6435 / 6435 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2145 / 2145 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6435 / 6435 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||
| Last intron/exon boundary | 6135 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 6084 | ||||||||||||||||
| Length of CDS | 6435 | ||||||||||||||||
| Coding sequence (CDS) position | 6058 | ||||||||||||||||
| cDNA position | 6058 | ||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||
| Speed | 0.06 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||
| Gene constraints | LOEUF: 0.20, LOF (oe): 0.14, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000399591.5 | ||||||||||||||||
| Genbank transcript ID | NM_001129838 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.6064G>A g.717931G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 12 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNNAEENS RISITFFRLF RVMRLVKLLS RGEGIRTLLW TFIKSFQALP YVALLIVMLF FIYAVIGMQV FGKIALNDTT EINRNNNFQT FPQAVLLLFR CATGEAWQDI MLACMPGKKC APESEPSNST EGETPCGSSF AVFYFISFYM LCAFLIINLF VAVIMDNFDY LTRDWSILGP HHLDEFKRIW AEYDPEAKGR IKHLDVVTLL RRIQPPLGFG KLCPHRVACK RLVSMNMPLN SDGTVMFNAT LFALVRTALR IKTEEGPSPS EAHQGAEDPF RPAGNLEQAN EELRAIIKKI WKRTSMKLLD QVVPPAGDDE VTVGKFYATF LIQEYFRKFK KRKEQGLVGK PSQRNALSLQ AGLRTLHDIG PEIRRAISGD LTAEEELDKA MKEAVSAASE DDIFRRAGGL FGNHVSYYQS DGRSAFPQTF TTQRPLHINK AGSSQGDTES PSHEKLVDST FTPSSYSSTG SNANINNANN TALGRLPRPA GYPSTVSTVE GHGPPLSPAI RVQEVAWKLS SNRCHSRESQ AAMAGQEETS QDETYEVKMN HDTEACSEPS LLSTEMLSYQ DDENRQLTLP EEDKRDIRQS PKRGFLRSAS LGRRASFHLE CLKRQKDRGG DISQKTVLPL HLVHHQALAV AGLSPLLQRS HSPASFPRPF ATPPATPGSR GWPPQPVPTL RLEGVESSEK LNSSFPSIHC GSWAETTPGG GGSSAARRVR PVSLMVPSQA GAPGRQFHGS ASSLVEAVLI SEGLGQFAQD PKFIEVTTQE LADACDMTIE EMESAADNIL SGGAPQSPNG ALLPFVNCRD AGQDRAGGEE DAGCVRARGR PSEEELQDSR VYVSSL* | ||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNNAEENS RISITFFRLF RVMRLVKLLS RGEGIRTLLW TFIKSFQALP YVALLIVMLF FIYAVIGMQV FGKIALNDTT EINRNNNFQT FPQAVLLLFR CATGEAWQDI MLACMPGKKC APESEPSNST EGETPCGSSF AVFYFISFYM LCAFLIINLF VAVIMDNFDY LTRDWSILGP HHLDEFKRIW AEYDPEAKGR IKHLDVVTLL RRIQPPLGFG KLCPHRVACK RLVSMNMPLN SDGTVMFNAT LFALVRTALR IKTEEGPSPS EAHQGAEDPF RPAGNLEQAN EELRAIIKKI WKRTSMKLLD QVVPPAGDDE VTVGKFYATF LIQEYFRKFK KRKEQGLVGK PSQRNALSLQ AGLRTLHDIG PEIRRAISGD LTAEEELDKA MKEAVSAASE DDIFRRAGGL FGNHVSYYQS DGRSAFPQTF TTQRPLHINK AGSSQGDTES PSHEKLVDST FTPSSYSSTG SNANINNANN TALGRLPRPA GYPSTVSTVE GHGPPLSPAI RVQEVAWKLS SNRCHSRESQ AAMAGQEETS QDETYEVKMN HDTEACSEPS LLSTEMLSYQ DDENRQLTLP EEDKRDIRQS PKRGFLRSAS LGRRASFHLE CLKRQKDRGG DISQKTVLPL HLVHHQALAV AGLSPLLQRS HSPASFPRPF ATPPATPGSR GWPPQPVPTL RLEGVESSEK LNSSFPSIHC GSWAETTPGG GGSSAARRVR PISLMVPSQA GAPGRQFHGS ASSLVEAVLI SEGLGQFAQD PKFIEVTTQE LADACDMTIE EMESAADNIL SGGAPQSPNG ALLPFVNCRD AGQDRAGGEE DAGCVRARGR PSEEELQDSR VYVSSL* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6441 / 6441 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2147 / 2147 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6441 / 6441 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||
| Last intron/exon boundary | 6141 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 6090 | ||||||||||||||||
| Length of CDS | 6441 | ||||||||||||||||
| Coding sequence (CDS) position | 6064 | ||||||||||||||||
| cDNA position | 6064 | ||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||
| Speed | 0.06 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||||||||||||
| Gene constraints | LOEUF: 0.20, LOF (oe): 0.14, misssense (oe): 0.60, synonymous (oe): 0.99 (gnomAD) | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000399621.5 | ||||||||||||||||||||||||||
| Genbank transcript ID | NM_001129834 (by similarity) | ||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.6097G>A g.717931G>A | ||||||||||||||||||||||||||
| AA changes |
| ||||||||||||||||||||||||||
| Frameshift | No | ||||||||||||||||||||||||||
| Length of protein | Normal | ||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||||||||||||
| Variant DBs |
| ||||||||||||||||||||||||||
| Protein conservation | |||||||||||||||||||||||||||
| Protein features |
| ||||||||||||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 12 | ||||||||||||||||||||||||||
| Strand | 1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEEGPSP SEAHQGAEDP FRPAGNLEQA NEELRAIIKK IWKRTSMKLL DQVVPPAGDD EVTVGKFYAT FLIQEYFRKF KKRKEQGLVG KPSQRNALSL QAGLRTLHDI GPEIRRAISG DLTAEEELDK AMKEAVSAAS EDDIFRRAGG LFGNHVSYYQ SDGRSAFPQT FTTQRPLHIN KAGSSQGDTE SPSHEKLVDS TFTPSSYSST GSNANINNAN NTALGRLPRP AGYPSTVSTV EGHGPPLSPA IRVQEVAWKL SSNRCHSRES QAAMAGQEET SQDETYEVKM NHDTEACSEP SLLSTEMLSY QDDENRQLTL PEEDKRDIRQ SPKRGFLRSA SLGRRASFHL ECLKRQKDRG GDISQKTVLP LHLVHHQALA VAGLSPLLQR SHSPASFPRP FATPPATPGS RGWPPQPVPT LRLEGVESSE KLNSSFPSIH CGSWAETTPG GGGSSAARRV RPVSLMVPSQ AGAPGRQFHG SASSLVEAVL ISEGLGQFAQ DPKFIEVTTQ ELADACDMTI EEMESAADNI LSGGAPQSPN GALLPFVNCR DAGQDRAGGE EDAGCVRARG RPSEEELQDS RVYVSSL* | ||||||||||||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEEGPSP SEAHQGAEDP FRPAGNLEQA NEELRAIIKK IWKRTSMKLL DQVVPPAGDD EVTVGKFYAT FLIQEYFRKF KKRKEQGLVG KPSQRNALSL QAGLRTLHDI GPEIRRAISG DLTAEEELDK AMKEAVSAAS EDDIFRRAGG LFGNHVSYYQ SDGRSAFPQT FTTQRPLHIN KAGSSQGDTE SPSHEKLVDS TFTPSSYSST GSNANINNAN NTALGRLPRP AGYPSTVSTV EGHGPPLSPA IRVQEVAWKL SSNRCHSRES QAAMAGQEET SQDETYEVKM NHDTEACSEP SLLSTEMLSY QDDENRQLTL PEEDKRDIRQ SPKRGFLRSA SLGRRASFHL ECLKRQKDRG GDISQKTVLP LHLVHHQALA VAGLSPLLQR SHSPASFPRP FATPPATPGS RGWPPQPVPT LRLEGVESSE KLNSSFPSIH CGSWAETTPG GGGSSAARRV RPISLMVPSQ AGAPGRQFHG SASSLVEAVL ISEGLGQFAQ DPKFIEVTTQ ELADACDMTI EEMESAADNI LSGGAPQSPN GALLPFVNCR DAGQDRAGGE EDAGCVRARG RPSEEELQDS RVYVSSL* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6474 / 6474 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2158 / 2158 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6474 / 6474 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 6174 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 6123 | ||||||||||||||||||||||||||
| Length of CDS | 6474 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 6097 | ||||||||||||||||||||||||||
| cDNA position | 6097 | ||||||||||||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||||||||||||
| Speed | 0.05 s | ||||||||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||||||||||||
| Gene constraints | LOEUF: 0.20, LOF (oe): 0.14, misssense (oe): 0.60, synonymous (oe): 0.99 (gnomAD) | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000402845.7 | ||||||||||||||||||||||||||
| Genbank transcript ID | NM_001129833 (by similarity) | ||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.6097G>A g.717931G>A | ||||||||||||||||||||||||||
| AA changes |
| ||||||||||||||||||||||||||
| Frameshift | No | ||||||||||||||||||||||||||
| Length of protein | Normal | ||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||||||||||||
| Variant DBs |
| ||||||||||||||||||||||||||
| Protein conservation | |||||||||||||||||||||||||||
| Protein features |
| ||||||||||||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 12 | ||||||||||||||||||||||||||
| Strand | 1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEEGPSP SEAHQGAEDP FRPAGNLEQA NEELRAIIKK IWKRTSMKLL DQVVPPAGDD EVTVGKFYAT FLIQEYFRKF KKRKEQGLVG KPSQRNALSL QAGLRTLHDI GPEIRRAISG DLTAEEELDK AMKEAVSAAS EDDIFRRAGG LFGNHVSYYQ SDGRSAFPQT FTTQRPLHIN KAGSSQGDTE SPSHEKLVDS TFTPSSYSST GSNANINNAN NTALGRLPRP AGYPSTVSTV EGHGPPLSPA IRVQEVAWKL SSNRCHSRES QAAMAGQEET SQDETYEVKM NHDTEACSEP SLLSTEMLSY QDDENRQLTL PEEDKRDIRQ SPKRGFLRSA SLGRRASFHL ECLKRQKDRG GDISQKTVLP LHLVHHQALA VAGLSPLLQR SHSPASFPRP FATPPATPGS RGWPPQPVPT LRLEGVESSE KLNSSFPSIH CGSWAETTPG GGGSSAARRV RPVSLMVPSQ AGAPGRQFHG SASSLVEAVL ISEGLGQFAQ DPKFIEVTTQ ELADACDMTI EEMESAADNI LSGGAPQSPN GALLPFVNCR DAGQDRAGGE EDAGCVRARG RPSEEELQDS RVYVSSL* | ||||||||||||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEEGPSP SEAHQGAEDP FRPAGNLEQA NEELRAIIKK IWKRTSMKLL DQVVPPAGDD EVTVGKFYAT FLIQEYFRKF KKRKEQGLVG KPSQRNALSL QAGLRTLHDI GPEIRRAISG DLTAEEELDK AMKEAVSAAS EDDIFRRAGG LFGNHVSYYQ SDGRSAFPQT FTTQRPLHIN KAGSSQGDTE SPSHEKLVDS TFTPSSYSST GSNANINNAN NTALGRLPRP AGYPSTVSTV EGHGPPLSPA IRVQEVAWKL SSNRCHSRES QAAMAGQEET SQDETYEVKM NHDTEACSEP SLLSTEMLSY QDDENRQLTL PEEDKRDIRQ SPKRGFLRSA SLGRRASFHL ECLKRQKDRG GDISQKTVLP LHLVHHQALA VAGLSPLLQR SHSPASFPRP FATPPATPGS RGWPPQPVPT LRLEGVESSE KLNSSFPSIH CGSWAETTPG GGGSSAARRV RPISLMVPSQ AGAPGRQFHG SASSLVEAVL ISEGLGQFAQ DPKFIEVTTQ ELADACDMTI EEMESAADNI LSGGAPQSPN GALLPFVNCR DAGQDRAGGE EDAGCVRARG RPSEEELQDS RVYVSSL* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6474 / 6474 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2158 / 2158 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6474 / 6474 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 6174 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 6123 | ||||||||||||||||||||||||||
| Length of CDS | 6474 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 6097 | ||||||||||||||||||||||||||
| cDNA position | 6097 | ||||||||||||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||||||||||||
| Speed | 0.06 s | ||||||||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||
| Gene symbol | CACNA1C | |||||||||||||
| Gene constraints | LOEUF: 0.19, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 0.99 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000682544.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.6379G>A g.717931G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Wildtype AA sequence | MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNHYFCDA WNTFDALIVV GSIVDIAITE VNPAEHTQCS PSMNAEENSR ISITFFRLFR VMRLVKLLSR GEGIRTLLWT FIKSFQALPY VALLIVMLFF IYAVIGMQVF GKIALNDTTE INRNNNFQTF PQAVLLLFRC ATGEAWQDIM LACMPGKKCA PESEPSNSTE GETPCGSSFA VFYFISFYML CAFLIINLFV AVIMDNFDYL TRDWSILGPH HLDEFKRIWA EYDPEAKGRI KHLDVVTLLR RIQPPLGFGK LCPHRVACKR LVSMNMPLNS DGTVMFNATL FALVRTALRI KTEGNLEQAN EELRAIIKKI WKRTSMKLLD QVVPPAGDDE VTVGKFYATF LIQEYFRKFK KRKEQGLVGK PSQRNALSLQ AGLRTLHDIG PEIRRAISGD LTAEEELDKA MKEAVSAASE DDIFRRAGGL FGNHVSYYQS DGRSAFPQTF TTQRPLHINK AGSSQGDTES PSHEKLVDST FTPSSYSSTG SNANINNANN TALGRLPRPA GYPSTVSTVE GHGPPLSPAI RVQEVAWKLS SNRERHVPMC EDLELRRDSG SAGTQAHCLL LRRANPSRCH SRESQAAMAG QEETSQDETY EVKMNHDTEA CSEPSLLSTE MLSYQDDENR QLTLPEEDKR DIRQSPKRGF LRSASLGRRA SFHLECLKRQ KDRGGDISQK TVLPLHLVHH QALAVAGLSP LLQRSHSPAS FPRPFATPPA TPGSRGWPPQ PVPTLRLEGV ESSEKLNSSF PSIHCGSWAE TTPGGGGSSA ARRVRPVSLM VPSQAGAPGR QFHGSASSLV EAVLISEGLG QFAQDPKFIE VTTQELADAC DMTIEEMESA ADNILSGGAP QSPNGALLPF VNCRDAGQDR AGGEEDAGCV RARGRPSEEE LQDSRVYVSS L* | |||||||||||||
| Mutated AA sequence | MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNHYFCDA WNTFDALIVV GSIVDIAITE VNPAEHTQCS PSMNAEENSR ISITFFRLFR VMRLVKLLSR GEGIRTLLWT FIKSFQALPY VALLIVMLFF IYAVIGMQVF GKIALNDTTE INRNNNFQTF PQAVLLLFRC ATGEAWQDIM LACMPGKKCA PESEPSNSTE GETPCGSSFA VFYFISFYML CAFLIINLFV AVIMDNFDYL TRDWSILGPH HLDEFKRIWA EYDPEAKGRI KHLDVVTLLR RIQPPLGFGK LCPHRVACKR LVSMNMPLNS DGTVMFNATL FALVRTALRI KTEGNLEQAN EELRAIIKKI WKRTSMKLLD QVVPPAGDDE VTVGKFYATF LIQEYFRKFK KRKEQGLVGK PSQRNALSLQ AGLRTLHDIG PEIRRAISGD LTAEEELDKA MKEAVSAASE DDIFRRAGGL FGNHVSYYQS DGRSAFPQTF TTQRPLHINK AGSSQGDTES PSHEKLVDST FTPSSYSSTG SNANINNANN TALGRLPRPA GYPSTVSTVE GHGPPLSPAI RVQEVAWKLS SNRERHVPMC EDLELRRDSG SAGTQAHCLL LRRANPSRCH SRESQAAMAG QEETSQDETY EVKMNHDTEA CSEPSLLSTE MLSYQDDENR QLTLPEEDKR DIRQSPKRGF LRSASLGRRA SFHLECLKRQ KDRGGDISQK TVLPLHLVHH QALAVAGLSP LLQRSHSPAS FPRPFATPPA TPGSRGWPPQ PVPTLRLEGV ESSEKLNSSF PSIHCGSWAE TTPGGGGSSA ARRVRPISLM VPSQAGAPGR QFHGSASSLV EAVLISEGLG QFAQDPKFIE VTTQELADAC DMTIEEMESA ADNILSGGAP QSPNGALLPF VNCRDAGQDR AGGEEDAGCV RARGRPSEEE LQDSRVYVSS L* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6756 / 6756 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2252 / 2252 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 7047 / 7047 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 292 / 292 | |||||||||||||
| Last intron/exon boundary | 6747 | |||||||||||||
| Theoretical NMD boundary in CDS | 6405 | |||||||||||||
| Length of CDS | 6756 | |||||||||||||
| Coding sequence (CDS) position | 6379 | |||||||||||||
| cDNA position | 6670 | |||||||||||||
| gDNA position | 717931 | |||||||||||||
| Chromosomal position | 2688702 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||
| Gene symbol | CACNA1C | |||||||||||||
| Gene constraints | LOEUF: 0.19, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 0.99 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000683781.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.6130G>A g.717931G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Wildtype AA sequence | MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | |||||||||||||
| Mutated AA sequence | MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPISLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6507 / 6507 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2169 / 2169 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6695 / 6695 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 189 / 189 | |||||||||||||
| Last intron/exon boundary | 6395 | |||||||||||||
| Theoretical NMD boundary in CDS | 6156 | |||||||||||||
| Length of CDS | 6507 | |||||||||||||
| Coding sequence (CDS) position | 6130 | |||||||||||||
| cDNA position | 6318 | |||||||||||||
| gDNA position | 717931 | |||||||||||||
| Chromosomal position | 2688702 | |||||||||||||
| Speed | 0.06 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||
| Gene symbol | CACNA1C | |||||||||||||
| Gene constraints | LOEUF: 0.19, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 0.99 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000682462.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.6130G>A g.717931G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Wildtype AA sequence | MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | |||||||||||||
| Mutated AA sequence | MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPISLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6507 / 6507 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2169 / 2169 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6695 / 6695 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 189 / 189 | |||||||||||||
| Last intron/exon boundary | 6395 | |||||||||||||
| Theoretical NMD boundary in CDS | 6156 | |||||||||||||
| Length of CDS | 6507 | |||||||||||||
| Coding sequence (CDS) position | 6130 | |||||||||||||
| cDNA position | 6318 | |||||||||||||
| gDNA position | 717931 | |||||||||||||
| Chromosomal position | 2688702 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||||||||||
| Gene symbol | CACNA1C | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.19, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000347598.9 | |||||||||||||||||||||
| Genbank transcript ID | NM_199460 (by similarity), NM_001129827 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.6184G>A g.717931G>A | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | N/A | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 12 | |||||||||||||||||||||
| Strand | 1 | |||||||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNHYFCDA WNTFDALIVV GSIVDIAITE VNPAEHTQCS PSMNAEENSR ISITFFRLFR VMRLVKLLSR GEGIRTLLWT FIKSFQALPY VALLIVMLFF IYAVIGMQVF GKIALNDTTE INRNNNFQTF PQAVLLLFRC ATGEAWQDIM LACMPGKKCA PESEPSNSTE GETPCGSSFA VFYFISFYML CAFLIINLFV AVIMDNFDYL TRDWSILGPH HLDEFKRIWA EYDPEAKGRI KHLDVVTLLR RIQPPLGFGK LCPHRVACKR LVSMNMPLNS DGTVMFNATL FALVRTALRI KTEGNLEQAN EELRAIIKKI WKRTSMKLLD QVVPPAGDDE VTVGKFYATF LIQEYFRKFK KRKEQGLVGK PSQRNALSLQ AGLRTLHDIG PEIRRAISGD LTAEEELDKA MKEAVSAASE DDIFRRAGGL FGNHVSYYQS DGRSAFPQTF TTQRPLHINK AGSSQGDTES PSHEKLVDST FTPSSYSSTG SNANINNANN TALGRLPRPA GYPSTVSTVE GHGPPLSPAI RVQEVAWKLS SNRCHSRESQ AAMAGQEETS QDETYEVKMN HDTEACSEPS LLSTEMLSYQ DDENRQLTLP EEDKRDIRQS PKRGFLRSAS LGRRASFHLE CLKRQKDRGG DISQKTVLPL HLVHHQALAV AGLSPLLQRS HSPASFPRPF ATPPATPGSR GWPPQPVPTL RLEGVESSEK LNSSFPSIHC GSWAETTPGG GGSSAARRVR PVSLMVPSQA GAPGRQFHGS ASSLVEAVLI SEGLGQFAQD PKFIEVTTQE LADACDMTIE EMESAADNIL SGGAPQSPNG ALLPFVNCRD AGQDRAGGEE DAGCVRARGR PSEEELQDSR VYVSSL* | |||||||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNHYFCDA WNTFDALIVV GSIVDIAITE VNPAEHTQCS PSMNAEENSR ISITFFRLFR VMRLVKLLSR GEGIRTLLWT FIKSFQALPY VALLIVMLFF IYAVIGMQVF GKIALNDTTE INRNNNFQTF PQAVLLLFRC ATGEAWQDIM LACMPGKKCA PESEPSNSTE GETPCGSSFA VFYFISFYML CAFLIINLFV AVIMDNFDYL TRDWSILGPH HLDEFKRIWA EYDPEAKGRI KHLDVVTLLR RIQPPLGFGK LCPHRVACKR LVSMNMPLNS DGTVMFNATL FALVRTALRI KTEGNLEQAN EELRAIIKKI WKRTSMKLLD QVVPPAGDDE VTVGKFYATF LIQEYFRKFK KRKEQGLVGK PSQRNALSLQ AGLRTLHDIG PEIRRAISGD LTAEEELDKA MKEAVSAASE DDIFRRAGGL FGNHVSYYQS DGRSAFPQTF TTQRPLHINK AGSSQGDTES PSHEKLVDST FTPSSYSSTG SNANINNANN TALGRLPRPA GYPSTVSTVE GHGPPLSPAI RVQEVAWKLS SNRCHSRESQ AAMAGQEETS QDETYEVKMN HDTEACSEPS LLSTEMLSYQ DDENRQLTLP EEDKRDIRQS PKRGFLRSAS LGRRASFHLE CLKRQKDRGG DISQKTVLPL HLVHHQALAV AGLSPLLQRS HSPASFPRPF ATPPATPGSR GWPPQPVPTL RLEGVESSEK LNSSFPSIHC GSWAETTPGG GGSSAARRVR PISLMVPSQA GAPGRQFHGS ASSLVEAVLI SEGLGQFAQD PKFIEVTTQE LADACDMTIE EMESAADNIL SGGAPQSPNG ALLPFVNCRD AGQDRAGGEE DAGCVRARGR PSEEELQDSR VYVSSL* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6561 / 6561 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2187 / 2187 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 7137 / 7137 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 577 / 577 | |||||||||||||||||||||
| Last intron/exon boundary | 6837 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 6210 | |||||||||||||||||||||
| Length of CDS | 6561 | |||||||||||||||||||||
| Coding sequence (CDS) position | 6184 | |||||||||||||||||||||
| cDNA position | 6760 | |||||||||||||||||||||
| gDNA position | 717931 | |||||||||||||||||||||
| Chromosomal position | 2688702 | |||||||||||||||||||||
| Speed | 0.06 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||
| Gene symbol | CACNA1C | |||||||||||||
| Gene constraints | LOEUF: 0.18, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 0.99 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000399617.6 | |||||||||||||
| Genbank transcript ID | NM_001167624 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.6145G>A g.717931G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRERHVP MCEDLELRRD SGSAGTQAHC LLLRRANPSR CHSRESQAAM AGQEETSQDE TYEVKMNHDT EACSEPSLLS TEMLSYQDDE NRQLTLPEED KRDIRQSPKR GFLRSASLGR RASFHLECLK RQKDRGGDIS QKTVLPLHLV HHQALAVAGL SPLLQRSHSP ASFPRPFATP PATPGSRGWP PQPVPTLRLE GVESSEKLNS SFPSIHCGSW AETTPGGGGS SAARRVRPVS LMVPSQAGAP GRQFHGSASS LVEAVLISEG LGQFAQDPKF IEVTTQELAD ACDMTIEEME SAADNILSGG APQSPNGALL PFVNCRDAGQ DRAGGEEDAG CVRARGRPSE EELQDSRVYV SSL* | |||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRERHVP MCEDLELRRD SGSAGTQAHC LLLRRANPSR CHSRESQAAM AGQEETSQDE TYEVKMNHDT EACSEPSLLS TEMLSYQDDE NRQLTLPEED KRDIRQSPKR GFLRSASLGR RASFHLECLK RQKDRGGDIS QKTVLPLHLV HHQALAVAGL SPLLQRSHSP ASFPRPFATP PATPGSRGWP PQPVPTLRLE GVESSEKLNS SFPSIHCGSW AETTPGGGGS SAARRVRPIS LMVPSQAGAP GRQFHGSASS LVEAVLISEG LGQFAQDPKF IEVTTQELAD ACDMTIEEME SAADNILSGG APQSPNGALL PFVNCRDAGQ DRAGGEEDAG CVRARGRPSE EELQDSRVYV SSL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6522 / 6522 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2174 / 2174 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6759 / 6759 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 238 / 238 | |||||||||||||
| Last intron/exon boundary | 6459 | |||||||||||||
| Theoretical NMD boundary in CDS | 6171 | |||||||||||||
| Length of CDS | 6522 | |||||||||||||
| Coding sequence (CDS) position | 6145 | |||||||||||||
| cDNA position | 6382 | |||||||||||||
| gDNA position | 717931 | |||||||||||||
| Chromosomal position | 2688702 | |||||||||||||
| Speed | 0.06 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||
| Gene constraints | LOEUF: 0.19, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000399603.6 | ||||||||||||||||
| Genbank transcript ID | NM_001167623 (exact from MANE) | ||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.6040G>A g.717931G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 12 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | ||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPISLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6417 / 6417 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2139 / 2139 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6993 / 6993 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 577 / 577 | ||||||||||||||||
| Last intron/exon boundary | 6693 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 6066 | ||||||||||||||||
| Length of CDS | 6417 | ||||||||||||||||
| Coding sequence (CDS) position | 6040 | ||||||||||||||||
| cDNA position | 6616 | ||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||
| Speed | 0.06 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||
| Gene symbol | CACNA1C | |||||||||||||
| Gene constraints | LOEUF: 0.19, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000682336.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.6082G>A g.717931G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNRGTPAGM LDQKKGKFAW FSHSTETHVS MPTSETESVN TENVAGGDIE GENCGARLAH RISKSKFSRY WRRWNRFCRR KCRAAVKSNV FYWLVIFLVF LNTLTIASEH YNQPNWLTEV QDTANKALLA LFTAEMLLKM YSLGLQAYFV SLFNRFDCFV VCGGILETIL VETKIMSPLG ISVLRCVRLL RIFKITRYWN SLSNLVASLL NSVRSIASLL LLLFLFIIIF SLLGMQLFGG KFNFDEMQTR RSTFDNFPQS LLTVFQILTG EDWNSVMYDG IMAYGGPSFP GMLVCIYFII LFICGNYILL NVFLAIAVDN LADAESLTSA QKEEEEEKER KKLARTASPE KKQELVEKPA VGESKEEKIE LKSITADGES PPATKINMDD LQPNENEDKS PYPNPETTGE EDEEEPEMPV GPRPRPLSEL HLKEKAVPMP EASAFFIFSS NNRFRLQCHR IVNDTIFTNL ILFFILLSSI SLAAEDPVQH TSFRNHILFY FDIVFTTIFT IEIALKMTAY GAFLHKGSFC RNYFNILDLL VVSVSLISFG IQSSAINVVK ILRVLRVLRP LRAINRAKGL KHVVQCVFVA IRTIGNIVIV TTLLQFMFAC IGVQLFKGKL YTCSDSSKQT EAECKGNYIT YKDGEVDHPI IQPRSWENSK FDFDNVLAAM MALFTVSTFE GWPELLYRSI DSHTEDKGPI YNYRVEISIF FIIYIIIIAF FMMNIFVGFV IVTFQEQGEQ EYKNCELDKN QRQCVEYALK ARPLRRYIPK NQHQYKVWYV VNSTYFEYLM FVLILLNTIC LAMQHYGQSC LFKIAMNILN MLFTGLFTVE MILKLIAFKP KGYFSDPWNV FDFLIVIGSI IDVILSETNN AEENSRISIT FFRLFRVMRL VKLLSRGEGI RTLLWTFIKS FQALPYVALL IVMLFFIYAV IGMQVFGKIA LNDTTEINRN NNFQTFPQAV LLLFRCATGE AWQDIMLACM PGKKCAPESE PSNSTEGETP CGSSFAVFYF ISFYMLCAFL IINLFVAVIM DNFDYLTRDW SILGPHHLDE FKRIWAEYDP EAKGRIKHLD VVTLLRRIQP PLGFGKLCPH RVACKRLVSM NMPLNSDGTV MFNATLFALV RTALRIKTEG NLEQANEELR AIIKKIWKRT SMKLLDQVVP PAGDDEVTVG KFYATFLIQE YFRKFKKRKE QGLVGKPSQR NALSLQAGLR TLHDIGPEIR RAISGDLTAE EELDKAMKEA VSAASEDDIF RRAGGLFGNH VSYYQSDGRS AFPQTFTTQR PLHINKAGSS QGDTESPSHE KLVDSTFTPS SYSSTGSNAN INNANNTALG RLPRPAGYPS TVSTVEGHGP PLSPAIRVQE VAWKLSSNRC HSRESQAAMA GQEETSQDET YEVKMNHDTE ACSEPSLLST EMLSYQDDEN RQLTLPEEDK RDIRQSPKRG FLRSASLGRR ASFHLECLKR QKDRGGDISQ KTVLPLHLVH HQALAVAGLS PLLQRSHSPA SFPRPFATPP ATPGSRGWPP QPVPTLRLEG VESSEKLNSS FPSIHCGSWA ETTPGGGGSS AARRVRPVSL MVPSQAGAPG RQFHGSASSL VEAVLISEGL GQFAQDPKFI EVTTQELADA CDMTIEEMES AADNILSGGA PQSPNGALLP FVNCRDAGQD RAGGEEDAGC VRARGRPSEE ELQDSRVYVS SL* | |||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNRGTPAGM LDQKKGKFAW FSHSTETHVS MPTSETESVN TENVAGGDIE GENCGARLAH RISKSKFSRY WRRWNRFCRR KCRAAVKSNV FYWLVIFLVF LNTLTIASEH YNQPNWLTEV QDTANKALLA LFTAEMLLKM YSLGLQAYFV SLFNRFDCFV VCGGILETIL VETKIMSPLG ISVLRCVRLL RIFKITRYWN SLSNLVASLL NSVRSIASLL LLLFLFIIIF SLLGMQLFGG KFNFDEMQTR RSTFDNFPQS LLTVFQILTG EDWNSVMYDG IMAYGGPSFP GMLVCIYFII LFICGNYILL NVFLAIAVDN LADAESLTSA QKEEEEEKER KKLARTASPE KKQELVEKPA VGESKEEKIE LKSITADGES PPATKINMDD LQPNENEDKS PYPNPETTGE EDEEEPEMPV GPRPRPLSEL HLKEKAVPMP EASAFFIFSS NNRFRLQCHR IVNDTIFTNL ILFFILLSSI SLAAEDPVQH TSFRNHILFY FDIVFTTIFT IEIALKMTAY GAFLHKGSFC RNYFNILDLL VVSVSLISFG IQSSAINVVK ILRVLRVLRP LRAINRAKGL KHVVQCVFVA IRTIGNIVIV TTLLQFMFAC IGVQLFKGKL YTCSDSSKQT EAECKGNYIT YKDGEVDHPI IQPRSWENSK FDFDNVLAAM MALFTVSTFE GWPELLYRSI DSHTEDKGPI YNYRVEISIF FIIYIIIIAF FMMNIFVGFV IVTFQEQGEQ EYKNCELDKN QRQCVEYALK ARPLRRYIPK NQHQYKVWYV VNSTYFEYLM FVLILLNTIC LAMQHYGQSC LFKIAMNILN MLFTGLFTVE MILKLIAFKP KGYFSDPWNV FDFLIVIGSI IDVILSETNN AEENSRISIT FFRLFRVMRL VKLLSRGEGI RTLLWTFIKS FQALPYVALL IVMLFFIYAV IGMQVFGKIA LNDTTEINRN NNFQTFPQAV LLLFRCATGE AWQDIMLACM PGKKCAPESE PSNSTEGETP CGSSFAVFYF ISFYMLCAFL IINLFVAVIM DNFDYLTRDW SILGPHHLDE FKRIWAEYDP EAKGRIKHLD VVTLLRRIQP PLGFGKLCPH RVACKRLVSM NMPLNSDGTV MFNATLFALV RTALRIKTEG NLEQANEELR AIIKKIWKRT SMKLLDQVVP PAGDDEVTVG KFYATFLIQE YFRKFKKRKE QGLVGKPSQR NALSLQAGLR TLHDIGPEIR RAISGDLTAE EELDKAMKEA VSAASEDDIF RRAGGLFGNH VSYYQSDGRS AFPQTFTTQR PLHINKAGSS QGDTESPSHE KLVDSTFTPS SYSSTGSNAN INNANNTALG RLPRPAGYPS TVSTVEGHGP PLSPAIRVQE VAWKLSSNRC HSRESQAAMA GQEETSQDET YEVKMNHDTE ACSEPSLLST EMLSYQDDEN RQLTLPEEDK RDIRQSPKRG FLRSASLGRR ASFHLECLKR QKDRGGDISQ KTVLPLHLVH HQALAVAGLS PLLQRSHSPA SFPRPFATPP ATPGSRGWPP QPVPTLRLEG VESSEKLNSS FPSIHCGSWA ETTPGGGGSS AARRVRPISL MVPSQAGAPG RQFHGSASSL VEAVLISEGL GQFAQDPKFI EVTTQELADA CDMTIEEMES AADNILSGGA PQSPNGALLP FVNCRDAGQD RAGGEEDAGC VRARGRPSEE ELQDSRVYVS SL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6459 / 6459 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2153 / 2153 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6459 / 6459 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 6159 | |||||||||||||
| Theoretical NMD boundary in CDS | 6108 | |||||||||||||
| Length of CDS | 6459 | |||||||||||||
| Coding sequence (CDS) position | 6082 | |||||||||||||
| cDNA position | 6082 | |||||||||||||
| gDNA position | 717931 | |||||||||||||
| Chromosomal position | 2688702 | |||||||||||||
| Speed | 0.06 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||
| Gene constraints | LOEUF: 0.18, LOF (oe): 0.12, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000683482.1 | ||||||||||||||||
| Genbank transcript ID | NM_001129844 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.6031G>A g.717931G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 12 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIAAEDDP SPCALETGHG RQCQNGTVCK PGWDGPKHGI TNFDNFAFAM LTVFQCITME GWTDVLYWVN DAVGRDWPWI YFVTLIIIGS FFVLNLVLGV LSGEFSKERE KAKARGDFQK LREKQQLEED LKGYLDWITQ AEDIDPENED EGMDEEKPRN MSMPTSETES VNTENVAGGD IEGENCGARL AHRISKSKFS RYWRRWNRFC RRKCRAAVKS NVFYWLVIFL VFLNTLTIAS EHYNQPNWLT EVQDTANKAL LALFTAEMLL KMYSLGLQAY FVSLFNRFDC FVVCGGILET ILVETKIMSP LGISVLRCVR LLRIFKITRY WNSLSNLVAS LLNSVRSIAS LLLLLFLFII IFSLLGMQLF GGKFNFDEMQ TRRSTFDNFP QSLLTVFQIL TGEDWNSVMY DGIMAYGGPS FPGMLVCIYF IILFICGNYI LLNVFLAIAV DNLADAESLT SAQKEEEEEK ERKKLARTAS PEKKQELVEK PAVGESKEEK IELKSITADG ESPPATKINM DDLQPNENED KSPYPNPETT GEEDEEEPEM PVGPRPRPLS ELHLKEKAVP MPEASAFFIF SSNNRFRLQC HRIVNDTIFT NLILFFILLS SISLAAEDPV QHTSFRNHIL FYFDIVFTTI FTIEIALKMT AYGAFLHKGS FCRNYFNILD LLVVSVSLIS FGIQSSAINV VKILRVLRVL RPLRAINRAK GLKHVVQCVF VAIRTIGNIV IVTTLLQFMF ACIGVQLFKG KLYTCSDSSK QTEAECKGNY ITYKDGEVDH PIIQPRSWEN SKFDFDNVLA AMMALFTVST FEGWPELLYR SIDSHTEDKG PIYNYRVEIS IFFIIYIIII AFFMMNIFVG FVIVTFQEQG EQEYKNCELD KNQRQCVEYA LKARPLRRYI PKNQHQYKVW YVVNSTYFEY LMFVLILLNT ICLAMQHYGQ SCLFKIAMNI LNMLFTGLFT VEMILKLIAF KPKGYFSDPW NVFDFLIVIG SIIDVILSET NPAEHTQCSP SMNAEENSRI SITFFRLFRV MRLVKLLSRG EGIRTLLWTF IKSFQALPYV ALLIVMLFFI YAVIGMQVFG KIALNDTTEI NRNNNFQTFP QAVLLLFRCA TGEAWQDIML ACMPGKKCAP ESEPSNSTEG ETPCGSSFAV FYFISFYMLC AFLIINLFVA VIMDNFDYLT RDWSILGPHH LDEFKRIWAE YDPEAKGRIK HLDVVTLLRR IQPPLGFGKL CPHRVACKRL VSMNMPLNSD GTVMFNATLF ALVRTALRIK TEGNLEQANE ELRAIIKKIW KRTSMKLLDQ VVPPAGDDEV TVGKFYATFL IQEYFRKFKK RKEQGLVGKP SQRNALSLQA GLRTLHDIGP EIRRAISGDL TAEEELDKAM KEAVSAASED DIFRRAGGLF GNHVSYYQSD GRSAFPQTFT TQRPLHINKA GSSQGDTESP SHEKLVDSTF TPSSYSSTGS NANINNANNT ALGRLPRPAG YPSTVSTVEG HGPPLSPAIR VQEVAWKLSS NRCHSRESQA AMAGQEETSQ DETYEVKMNH DTEACSEPSL LSTEMLSYQD DENRQLTLPE EDKRDIRQSP KRGFLRSASL GRRASFHLEC LKRQKDRGGD ISQKTVLPLH LVHHQALAVA GLSPLLQRSH SPASFPRPFA TPPATPGSRG WPPQPVPTLR LEGVESSEKL NSSFPSIHCG SWAETTPGGG GSSAARRVRP VSLMVPSQAG APGRQFHGSA SSLVEAVLIS EGLGQFAQDP KFIEVTTQEL ADACDMTIEE MESAADNILS GGAPQSPNGA LLPFVNCRDA GQDRAGGEED AGCVRARGRP SEEELQDSRV YVSSL* | ||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIAAEDDP SPCALETGHG RQCQNGTVCK PGWDGPKHGI TNFDNFAFAM LTVFQCITME GWTDVLYWVN DAVGRDWPWI YFVTLIIIGS FFVLNLVLGV LSGEFSKERE KAKARGDFQK LREKQQLEED LKGYLDWITQ AEDIDPENED EGMDEEKPRN MSMPTSETES VNTENVAGGD IEGENCGARL AHRISKSKFS RYWRRWNRFC RRKCRAAVKS NVFYWLVIFL VFLNTLTIAS EHYNQPNWLT EVQDTANKAL LALFTAEMLL KMYSLGLQAY FVSLFNRFDC FVVCGGILET ILVETKIMSP LGISVLRCVR LLRIFKITRY WNSLSNLVAS LLNSVRSIAS LLLLLFLFII IFSLLGMQLF GGKFNFDEMQ TRRSTFDNFP QSLLTVFQIL TGEDWNSVMY DGIMAYGGPS FPGMLVCIYF IILFICGNYI LLNVFLAIAV DNLADAESLT SAQKEEEEEK ERKKLARTAS PEKKQELVEK PAVGESKEEK IELKSITADG ESPPATKINM DDLQPNENED KSPYPNPETT GEEDEEEPEM PVGPRPRPLS ELHLKEKAVP MPEASAFFIF SSNNRFRLQC HRIVNDTIFT NLILFFILLS SISLAAEDPV QHTSFRNHIL FYFDIVFTTI FTIEIALKMT AYGAFLHKGS FCRNYFNILD LLVVSVSLIS FGIQSSAINV VKILRVLRVL RPLRAINRAK GLKHVVQCVF VAIRTIGNIV IVTTLLQFMF ACIGVQLFKG KLYTCSDSSK QTEAECKGNY ITYKDGEVDH PIIQPRSWEN SKFDFDNVLA AMMALFTVST FEGWPELLYR SIDSHTEDKG PIYNYRVEIS IFFIIYIIII AFFMMNIFVG FVIVTFQEQG EQEYKNCELD KNQRQCVEYA LKARPLRRYI PKNQHQYKVW YVVNSTYFEY LMFVLILLNT ICLAMQHYGQ SCLFKIAMNI LNMLFTGLFT VEMILKLIAF KPKGYFSDPW NVFDFLIVIG SIIDVILSET NPAEHTQCSP SMNAEENSRI SITFFRLFRV MRLVKLLSRG EGIRTLLWTF IKSFQALPYV ALLIVMLFFI YAVIGMQVFG KIALNDTTEI NRNNNFQTFP QAVLLLFRCA TGEAWQDIML ACMPGKKCAP ESEPSNSTEG ETPCGSSFAV FYFISFYMLC AFLIINLFVA VIMDNFDYLT RDWSILGPHH LDEFKRIWAE YDPEAKGRIK HLDVVTLLRR IQPPLGFGKL CPHRVACKRL VSMNMPLNSD GTVMFNATLF ALVRTALRIK TEGNLEQANE ELRAIIKKIW KRTSMKLLDQ VVPPAGDDEV TVGKFYATFL IQEYFRKFKK RKEQGLVGKP SQRNALSLQA GLRTLHDIGP EIRRAISGDL TAEEELDKAM KEAVSAASED DIFRRAGGLF GNHVSYYQSD GRSAFPQTFT TQRPLHINKA GSSQGDTESP SHEKLVDSTF TPSSYSSTGS NANINNANNT ALGRLPRPAG YPSTVSTVEG HGPPLSPAIR VQEVAWKLSS NRCHSRESQA AMAGQEETSQ DETYEVKMNH DTEACSEPSL LSTEMLSYQD DENRQLTLPE EDKRDIRQSP KRGFLRSASL GRRASFHLEC LKRQKDRGGD ISQKTVLPLH LVHHQALAVA GLSPLLQRSH SPASFPRPFA TPPATPGSRG WPPQPVPTLR LEGVESSEKL NSSFPSIHCG SWAETTPGGG GSSAARRVRP ISLMVPSQAG APGRQFHGSA SSLVEAVLIS EGLGQFAQDP KFIEVTTQEL ADACDMTIEE MESAADNILS GGAPQSPNGA LLPFVNCRDA GQDRAGGEED AGCVRARGRP SEEELQDSRV YVSSL* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6408 / 6408 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2136 / 2136 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6536 / 6536 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 129 / 129 | ||||||||||||||||
| Last intron/exon boundary | 6236 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 6057 | ||||||||||||||||
| Length of CDS | 6408 | ||||||||||||||||
| Coding sequence (CDS) position | 6031 | ||||||||||||||||
| cDNA position | 6159 | ||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||
| Speed | 0.06 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||
| Gene constraints | LOEUF: 0.19, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000399597.5 | ||||||||||||||||
| Genbank transcript ID | NM_001129842 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.6040G>A g.717931G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 12 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | ||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPISLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6417 / 6417 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2139 / 2139 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6417 / 6417 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||
| Last intron/exon boundary | 6117 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 6066 | ||||||||||||||||
| Length of CDS | 6417 | ||||||||||||||||
| Coding sequence (CDS) position | 6040 | ||||||||||||||||
| cDNA position | 6040 | ||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||
| Speed | 0.06 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||||||||||||
| Gene constraints | LOEUF: 0.19, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000399606.5 | ||||||||||||||||||||||||||
| Genbank transcript ID | NM_001129832 (by similarity) | ||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.6100G>A g.717931G>A | ||||||||||||||||||||||||||
| AA changes |
| ||||||||||||||||||||||||||
| Frameshift | No | ||||||||||||||||||||||||||
| Length of protein | Normal | ||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||||||||||||
| Variant DBs |
| ||||||||||||||||||||||||||
| Protein conservation | |||||||||||||||||||||||||||
| Protein features |
| ||||||||||||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 12 | ||||||||||||||||||||||||||
| Strand | 1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | ||||||||||||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPISLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6477 / 6477 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2159 / 2159 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6477 / 6477 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 6177 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 6126 | ||||||||||||||||||||||||||
| Length of CDS | 6477 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 6100 | ||||||||||||||||||||||||||
| cDNA position | 6100 | ||||||||||||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||||||||||||
| Speed | 0.06 s | ||||||||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||||||||||
| Gene symbol | CACNA1C | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.19, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000399629.5 | |||||||||||||||||||||
| Genbank transcript ID | NM_001129836 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.6091G>A g.717931G>A | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | N/A | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 12 | |||||||||||||||||||||
| Strand | 1 | |||||||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNHYFCDA WNTFDALIVV GSIVDIAITE VNNAEENSRI SITFFRLFRV MRLVKLLSRG EGIRTLLWTF IKSFQALPYV ALLIVMLFFI YAVIGMQVFG KIALNDTTEI NRNNNFQTFP QAVLLLFRCA TGEAWQDIML ACMPGKKCAP ESEPSNSTEG ETPCGSSFAV FYFISFYMLC AFLIINLFVA VIMDNFDYLT RDWSILGPHH LDEFKRIWAE YDPEAKGRIK HLDVVTLLRR IQPPLGFGKL CPHRVACKRL VSMNMPLNSD GTVMFNATLF ALVRTALRIK TEGNLEQANE ELRAIIKKIW KRTSMKLLDQ VVPPAGDDEV TVGKFYATFL IQEYFRKFKK RKEQGLVGKP SQRNALSLQA GLRTLHDIGP EIRRAISGDL TAEEELDKAM KEAVSAASED DIFRRAGGLF GNHVSYYQSD GRSAFPQTFT TQRPLHINKA GSSQGDTESP SHEKLVDSTF TPSSYSSTGS NANINNANNT ALGRLPRPAG YPSTVSTVEG HGPPLSPAIR VQEVAWKLSS NRCHSRESQA AMAGQEETSQ DETYEVKMNH DTEACSEPSL LSTEMLSYQD DENRQLTLPE EDKRDIRQSP KRGFLRSASL GRRASFHLEC LKRQKDRGGD ISQKTVLPLH LVHHQALAVA GLSPLLQRSH SPASFPRPFA TPPATPGSRG WPPQPVPTLR LEGVESSEKL NSSFPSIHCG SWAETTPGGG GSSAARRVRP VSLMVPSQAG APGRQFHGSA SSLVEAVLIS EGLGQFAQDP KFIEVTTQEL ADACDMTIEE MESAADNILS GGAPQSPNGA LLPFVNCRDA GQDRAGGEED AGCVRARGRP SEEELQDSRV YVSSL* | |||||||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNHYFCDA WNTFDALIVV GSIVDIAITE VNNAEENSRI SITFFRLFRV MRLVKLLSRG EGIRTLLWTF IKSFQALPYV ALLIVMLFFI YAVIGMQVFG KIALNDTTEI NRNNNFQTFP QAVLLLFRCA TGEAWQDIML ACMPGKKCAP ESEPSNSTEG ETPCGSSFAV FYFISFYMLC AFLIINLFVA VIMDNFDYLT RDWSILGPHH LDEFKRIWAE YDPEAKGRIK HLDVVTLLRR IQPPLGFGKL CPHRVACKRL VSMNMPLNSD GTVMFNATLF ALVRTALRIK TEGNLEQANE ELRAIIKKIW KRTSMKLLDQ VVPPAGDDEV TVGKFYATFL IQEYFRKFKK RKEQGLVGKP SQRNALSLQA GLRTLHDIGP EIRRAISGDL TAEEELDKAM KEAVSAASED DIFRRAGGLF GNHVSYYQSD GRSAFPQTFT TQRPLHINKA GSSQGDTESP SHEKLVDSTF TPSSYSSTGS NANINNANNT ALGRLPRPAG YPSTVSTVEG HGPPLSPAIR VQEVAWKLSS NRCHSRESQA AMAGQEETSQ DETYEVKMNH DTEACSEPSL LSTEMLSYQD DENRQLTLPE EDKRDIRQSP KRGFLRSASL GRRASFHLEC LKRQKDRGGD ISQKTVLPLH LVHHQALAVA GLSPLLQRSH SPASFPRPFA TPPATPGSRG WPPQPVPTLR LEGVESSEKL NSSFPSIHCG SWAETTPGGG GSSAARRVRP ISLMVPSQAG APGRQFHGSA SSLVEAVLIS EGLGQFAQDP KFIEVTTQEL ADACDMTIEE MESAADNILS GGAPQSPNGA LLPFVNCRDA GQDRAGGEED AGCVRARGRP SEEELQDSRV YVSSL* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6468 / 6468 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2156 / 2156 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6468 / 6468 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||||||||||
| Last intron/exon boundary | 6168 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 6117 | |||||||||||||||||||||
| Length of CDS | 6468 | |||||||||||||||||||||
| Coding sequence (CDS) position | 6091 | |||||||||||||||||||||
| cDNA position | 6091 | |||||||||||||||||||||
| gDNA position | 717931 | |||||||||||||||||||||
| Chromosomal position | 2688702 | |||||||||||||||||||||
| Speed | 0.06 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||||||||||||
| Gene constraints | LOEUF: 0.19, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000399638.5 | ||||||||||||||||||||||||||
| Genbank transcript ID | NM_001129831 (by similarity) | ||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.6124G>A g.717931G>A | ||||||||||||||||||||||||||
| AA changes |
| ||||||||||||||||||||||||||
| Frameshift | No | ||||||||||||||||||||||||||
| Length of protein | Normal | ||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||||||||||||
| Variant DBs |
| ||||||||||||||||||||||||||
| Protein conservation | |||||||||||||||||||||||||||
| Protein features |
| ||||||||||||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 12 | ||||||||||||||||||||||||||
| Strand | 1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNHYFCDA WNTFDALIVV GSIVDIAITE VNPAEHTQCS PSMNAEENSR ISITFFRLFR VMRLVKLLSR GEGIRTLLWT FIKSFQALPY VALLIVMLFF IYAVIGMQVF GKIALNDTTE INRNNNFQTF PQAVLLLFRC ATGEAWQDIM LACMPGKKCA PESEPSNSTE GETPCGSSFA VFYFISFYML CAFLIINLFV AVIMDNFDYL TRDWSILGPH HLDEFKRIWA EYDPEAKGRI KHLDVVTLLR RIQPPLGFGK LCPHRVACKR LVSMNMPLNS DGTVMFNATL FALVRTALRI KTEGNLEQAN EELRAIIKKI WKRTSMKLLD QVVPPAGDDE VTVGKFYATF LIQEYFRKFK KRKEQGLVGK PSQRNALSLQ AGLRTLHDIG PEIRRAISGD LTAEEELDKA MKEAVSAASE DDIFRRAGGL FGNHVSYYQS DGRSAFPQTF TTQRPLHINK AGSSQGDTES PSHEKLVDST FTPSSYSSTG SNANINNANN TALGRLPRPA GYPSTVSTVE GHGPPLSPAI RVQEVAWKLS SNRCHSRESQ AAMAGQEETS QDETYEVKMN HDTEACSEPS LLSTEMLSYQ DDENRQLTLP EEDKRDIRQS PKRGFLRSAS LGRRASFHLE CLKRQKDRGG DISQKTVLPL HLVHHQALAV AGLSPLLQRS HSPASFPRPF ATPPATPGSR GWPPQPVPTL RLEGVESSEK LNSSFPSIHC GSWAETTPGG GGSSAARRVR PVSLMVPSQA GAPGRQFHGS ASSLVEAVLI SEGLGQFAQD PKFIEVTTQE LADACDMTIE EMESAADNIL SGGAPQSPNG ALLPFVNCRD AGQDRAGGEE DAGCVRARGR PSEEELQDSR VYVSSL* | ||||||||||||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILFYFDIVF TTIFTIEIAL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNHYFCDA WNTFDALIVV GSIVDIAITE VNPAEHTQCS PSMNAEENSR ISITFFRLFR VMRLVKLLSR GEGIRTLLWT FIKSFQALPY VALLIVMLFF IYAVIGMQVF GKIALNDTTE INRNNNFQTF PQAVLLLFRC ATGEAWQDIM LACMPGKKCA PESEPSNSTE GETPCGSSFA VFYFISFYML CAFLIINLFV AVIMDNFDYL TRDWSILGPH HLDEFKRIWA EYDPEAKGRI KHLDVVTLLR RIQPPLGFGK LCPHRVACKR LVSMNMPLNS DGTVMFNATL FALVRTALRI KTEGNLEQAN EELRAIIKKI WKRTSMKLLD QVVPPAGDDE VTVGKFYATF LIQEYFRKFK KRKEQGLVGK PSQRNALSLQ AGLRTLHDIG PEIRRAISGD LTAEEELDKA MKEAVSAASE DDIFRRAGGL FGNHVSYYQS DGRSAFPQTF TTQRPLHINK AGSSQGDTES PSHEKLVDST FTPSSYSSTG SNANINNANN TALGRLPRPA GYPSTVSTVE GHGPPLSPAI RVQEVAWKLS SNRCHSRESQ AAMAGQEETS QDETYEVKMN HDTEACSEPS LLSTEMLSYQ DDENRQLTLP EEDKRDIRQS PKRGFLRSAS LGRRASFHLE CLKRQKDRGG DISQKTVLPL HLVHHQALAV AGLSPLLQRS HSPASFPRPF ATPPATPGSR GWPPQPVPTL RLEGVESSEK LNSSFPSIHC GSWAETTPGG GGSSAARRVR PISLMVPSQA GAPGRQFHGS ASSLVEAVLI SEGLGQFAQD PKFIEVTTQE LADACDMTIE EMESAADNIL SGGAPQSPNG ALLPFVNCRD AGQDRAGGEE DAGCVRARGR PSEEELQDSR VYVSSL* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6501 / 6501 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2167 / 2167 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6501 / 6501 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 6201 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 6150 | ||||||||||||||||||||||||||
| Length of CDS | 6501 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 6124 | ||||||||||||||||||||||||||
| cDNA position | 6124 | ||||||||||||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||||||||||||
| Speed | 0.05 s | ||||||||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||
| Gene symbol | CACNA1C | |||||||||||||
| Gene constraints | LOEUF: 0.19, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 0.99 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000683824.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.6205G>A g.717931G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Wildtype AA sequence | MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNRGTPAGM LDQKKGKFAW FSHSTETHVS MPTSETESVN TENVAGGDIE GENCGARLAH RISKSKFSRY WRRWNRFCRR KCRAAVKSNV FYWLVIFLVF LNTLTIASEH YNQPNWLTEV QDTANKALLA LFTAEMLLKM YSLGLQAYFV SLFNRFDCFV VCGGILETIL VETKIMSPLG ISVLRCVRLL RIFKITRYWN SLSNLVASLL NSVRSIASLL LLLFLFIIIF SLLGMQLFGG KFNFDEMQTR RSTFDNFPQS LLTVFQILTG EDWNSVMYDG IMAYGGPSFP GMLVCIYFII LFICGNYILL NVFLAIAVDN LADAESLTSA QKEEEEEKER KKLARTASPE KKQELVEKPA VGESKEEKIE LKSITADGES PPATKINMDD LQPNENEDKS PYPNPETTGE EDEEEPEMPV GPRPRPLSEL HLKEKAVPMP EASAFFIFSS NNRFRLQCHR IVNDTIFTNL ILFFILLSSI SLAAEDPVQH TSFRNHILFY FDIVFTTIFT IEIALKMTAY GAFLHKGSFC RNYFNILDLL VVSVSLISFG IQSSAINVVK ILRVLRVLRP LRAINRAKGL KHVVQCVFVA IRTIGNIVIV TTLLQFMFAC IGVQLFKGKL YTCSDSSKQT EAECKGNYIT YKDGEVDHPI IQPRSWENSK FDFDNVLAAM MALFTVSTFE GWPELLYRSI DSHTEDKGPI YNYRVEISIF FIIYIIIIAF FMMNIFVGFV IVTFQEQGEQ EYKNCELDKN QRQCVEYALK ARPLRRYIPK NQHQYKVWYV VNSTYFEYLM FVLILLNTIC LAMQHYGQSC LFKIAMNILN MLFTGLFTVE MILKLIAFKP KGYFSDPWNV FDFLIVIGSI IDVILSETNP AEHTQCSPSM NAEENSRISI TFFRLFRVMR LVKLLSRGEG IRTLLWTFIK SFQALPYVAL LIVMLFFIYA VIGMQVFGKI ALNDTTEINR NNNFQTFPQA VLLLFRCATG EAWQDIMLAC MPGKKCAPES EPSNSTEGET PCGSSFAVFY FISFYMLCAF LIINLFVAVI MDNFDYLTRD WSILGPHHLD EFKRIWAEYD PEAKGRIKHL DVVTLLRRIQ PPLGFGKLCP HRVACKRLVS MNMPLNSDGT VMFNATLFAL VRTALRIKTE GNLEQANEEL RAIIKKIWKR TSMKLLDQVV PPAGDDEVTV GKFYATFLIQ EYFRKFKKRK EQGLVGKPSQ RNALSLQAGL RTLHDIGPEI RRAISGDLTA EEELDKAMKE AVSAASEDDI FRRAGGLFGN HVSYYQSDGR SAFPQTFTTQ RPLHINKAGS SQGDTESPSH EKLVDSTFTP SSYSSTGSNA NINNANNTAL GRLPRPAGYP STVSTVEGHG PPLSPAIRVQ EVAWKLSSNR CHSRESQAAM AGQEETSQDE TYEVKMNHDT EACSEPSLLS TEMLSYQDDE NRQLTLPEED KRDIRQSPKR GFLRSASLGR RASFHLECLK RQKDRGGDIS QKTVLPLHLV HHQALAVAGL SPLLQRSHSP ASFPRPFATP PATPGSRGWP PQPVPTLRLE GVESSEKLNS SFPSIHCGSW AETTPGGGGS SAARRVRPVS LMVPSQAGAP GRQFHGSASS LVEAVLISEG LGQFAQDPKF IEVTTQELAD ACDMTIEEME SAADNILSGG APQSPNGALL PFVNCRDAGQ DRAGGEEDAG CVRARGRPSE EELQDSRVYV SSL* | |||||||||||||
| Mutated AA sequence | MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNRGTPAGM LDQKKGKFAW FSHSTETHVS MPTSETESVN TENVAGGDIE GENCGARLAH RISKSKFSRY WRRWNRFCRR KCRAAVKSNV FYWLVIFLVF LNTLTIASEH YNQPNWLTEV QDTANKALLA LFTAEMLLKM YSLGLQAYFV SLFNRFDCFV VCGGILETIL VETKIMSPLG ISVLRCVRLL RIFKITRYWN SLSNLVASLL NSVRSIASLL LLLFLFIIIF SLLGMQLFGG KFNFDEMQTR RSTFDNFPQS LLTVFQILTG EDWNSVMYDG IMAYGGPSFP GMLVCIYFII LFICGNYILL NVFLAIAVDN LADAESLTSA QKEEEEEKER KKLARTASPE KKQELVEKPA VGESKEEKIE LKSITADGES PPATKINMDD LQPNENEDKS PYPNPETTGE EDEEEPEMPV GPRPRPLSEL HLKEKAVPMP EASAFFIFSS NNRFRLQCHR IVNDTIFTNL ILFFILLSSI SLAAEDPVQH TSFRNHILFY FDIVFTTIFT IEIALKMTAY GAFLHKGSFC RNYFNILDLL VVSVSLISFG IQSSAINVVK ILRVLRVLRP LRAINRAKGL KHVVQCVFVA IRTIGNIVIV TTLLQFMFAC IGVQLFKGKL YTCSDSSKQT EAECKGNYIT YKDGEVDHPI IQPRSWENSK FDFDNVLAAM MALFTVSTFE GWPELLYRSI DSHTEDKGPI YNYRVEISIF FIIYIIIIAF FMMNIFVGFV IVTFQEQGEQ EYKNCELDKN QRQCVEYALK ARPLRRYIPK NQHQYKVWYV VNSTYFEYLM FVLILLNTIC LAMQHYGQSC LFKIAMNILN MLFTGLFTVE MILKLIAFKP KGYFSDPWNV FDFLIVIGSI IDVILSETNP AEHTQCSPSM NAEENSRISI TFFRLFRVMR LVKLLSRGEG IRTLLWTFIK SFQALPYVAL LIVMLFFIYA VIGMQVFGKI ALNDTTEINR NNNFQTFPQA VLLLFRCATG EAWQDIMLAC MPGKKCAPES EPSNSTEGET PCGSSFAVFY FISFYMLCAF LIINLFVAVI MDNFDYLTRD WSILGPHHLD EFKRIWAEYD PEAKGRIKHL DVVTLLRRIQ PPLGFGKLCP HRVACKRLVS MNMPLNSDGT VMFNATLFAL VRTALRIKTE GNLEQANEEL RAIIKKIWKR TSMKLLDQVV PPAGDDEVTV GKFYATFLIQ EYFRKFKKRK EQGLVGKPSQ RNALSLQAGL RTLHDIGPEI RRAISGDLTA EEELDKAMKE AVSAASEDDI FRRAGGLFGN HVSYYQSDGR SAFPQTFTTQ RPLHINKAGS SQGDTESPSH EKLVDSTFTP SSYSSTGSNA NINNANNTAL GRLPRPAGYP STVSTVEGHG PPLSPAIRVQ EVAWKLSSNR CHSRESQAAM AGQEETSQDE TYEVKMNHDT EACSEPSLLS TEMLSYQDDE NRQLTLPEED KRDIRQSPKR GFLRSASLGR RASFHLECLK RQKDRGGDIS QKTVLPLHLV HHQALAVAGL SPLLQRSHSP ASFPRPFATP PATPGSRGWP PQPVPTLRLE GVESSEKLNS SFPSIHCGSW AETTPGGGGS SAARRVRPIS LMVPSQAGAP GRQFHGSASS LVEAVLISEG LGQFAQDPKF IEVTTQELAD ACDMTIEEME SAADNILSGG APQSPNGALL PFVNCRDAGQ DRAGGEEDAG CVRARGRPSE EELQDSRVYV SSL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6582 / 6582 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2194 / 2194 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6582 / 6582 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 6282 | |||||||||||||
| Theoretical NMD boundary in CDS | 6231 | |||||||||||||
| Length of CDS | 6582 | |||||||||||||
| Coding sequence (CDS) position | 6205 | |||||||||||||
| cDNA position | 6205 | |||||||||||||
| gDNA position | 717931 | |||||||||||||
| Chromosomal position | 2688702 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||
| Gene symbol | CACNA1C | |||||||||||||
| Gene constraints | LOEUF: 0.18, LOF (oe): 0.13, misssense (oe): 0.59, synonymous (oe): 1.00 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000683956.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.6130G>A g.717931G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Wildtype AA sequence | MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | |||||||||||||
| Mutated AA sequence | MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPISLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6507 / 6507 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2169 / 2169 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6523 / 6523 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 17 / 17 | |||||||||||||
| Last intron/exon boundary | 6223 | |||||||||||||
| Theoretical NMD boundary in CDS | 6156 | |||||||||||||
| Length of CDS | 6507 | |||||||||||||
| Coding sequence (CDS) position | 6130 | |||||||||||||
| cDNA position | 6146 | |||||||||||||
| gDNA position | 717931 | |||||||||||||
| Chromosomal position | 2688702 | |||||||||||||
| Speed | 0.06 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||
| Gene constraints | LOEUF: 0.19, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000682686.1 | ||||||||||||||||
| Genbank transcript ID | NM_001129846 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.6007G>A g.717931G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 12 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNNAEENS RISITFFRLF RVMRLVKLLS RGEGIRTLLW TFIKSFQALP YVALLIVMLF FIYAVIGMQV FGKIALNDTT EINRNNNFQT FPQAVLLLFR CATGEAWQDI MLACMPGKKC APESEPSNST EGETPCGSSF AVFYFISFYM LCAFLIINLF VAVIMDNFDY LTRDWSILGP HHLDEFKRIW AEYDPEAKGR IKHLDVVTLL RRIQPPLGFG KLCPHRVACK RLVSMNMPLN SDGTVMFNAT LFALVRTALR IKTEGNLEQA NEELRAIIKK IWKRTSMKLL DQVVPPAGDD EVTVGKFYAT FLIQEYFRKF KKRKEQGLVG KPSQRNALSL QAGLRTLHDI GPEIRRAISG DLTAEEELDK AMKEAVSAAS EDDIFRRAGG LFGNHVSYYQ SDGRSAFPQT FTTQRPLHIN KAGSSQGDTE SPSHEKLVDS TFTPSSYSST GSNANINNAN NTALGRLPRP AGYPSTVSTV EGHGPPLSPA IRVQEVAWKL SSNRCHSRES QAAMAGQEET SQDETYEVKM NHDTEACSEP SLLSTEMLSY QDDENRQLTL PEEDKRDIRQ SPKRGFLRSA SLGRRASFHL ECLKRQKDRG GDISQKTVLP LHLVHHQALA VAGLSPLLQR SHSPASFPRP FATPPATPGS RGWPPQPVPT LRLEGVESSE KLNSSFPSIH CGSWAETTPG GGGSSAARRV RPVSLMVPSQ AGAPGRQFHG SASSLVEAVL ISEGLGQFAQ DPKFIEVTTQ ELADACDMTI EEMESAADNI LSGGAPQSPN GALLPFVNCR DAGQDRAGGE EDAGCVRARG RPSEEELQDS RVYVSSL* | ||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNNAEENS RISITFFRLF RVMRLVKLLS RGEGIRTLLW TFIKSFQALP YVALLIVMLF FIYAVIGMQV FGKIALNDTT EINRNNNFQT FPQAVLLLFR CATGEAWQDI MLACMPGKKC APESEPSNST EGETPCGSSF AVFYFISFYM LCAFLIINLF VAVIMDNFDY LTRDWSILGP HHLDEFKRIW AEYDPEAKGR IKHLDVVTLL RRIQPPLGFG KLCPHRVACK RLVSMNMPLN SDGTVMFNAT LFALVRTALR IKTEGNLEQA NEELRAIIKK IWKRTSMKLL DQVVPPAGDD EVTVGKFYAT FLIQEYFRKF KKRKEQGLVG KPSQRNALSL QAGLRTLHDI GPEIRRAISG DLTAEEELDK AMKEAVSAAS EDDIFRRAGG LFGNHVSYYQ SDGRSAFPQT FTTQRPLHIN KAGSSQGDTE SPSHEKLVDS TFTPSSYSST GSNANINNAN NTALGRLPRP AGYPSTVSTV EGHGPPLSPA IRVQEVAWKL SSNRCHSRES QAAMAGQEET SQDETYEVKM NHDTEACSEP SLLSTEMLSY QDDENRQLTL PEEDKRDIRQ SPKRGFLRSA SLGRRASFHL ECLKRQKDRG GDISQKTVLP LHLVHHQALA VAGLSPLLQR SHSPASFPRP FATPPATPGS RGWPPQPVPT LRLEGVESSE KLNSSFPSIH CGSWAETTPG GGGSSAARRV RPISLMVPSQ AGAPGRQFHG SASSLVEAVL ISEGLGQFAQ DPKFIEVTTQ ELADACDMTI EEMESAADNI LSGGAPQSPN GALLPFVNCR DAGQDRAGGE EDAGCVRARG RPSEEELQDS RVYVSSL* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6384 / 6384 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2128 / 2128 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6384 / 6384 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||
| Last intron/exon boundary | 6084 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 6033 | ||||||||||||||||
| Length of CDS | 6384 | ||||||||||||||||
| Coding sequence (CDS) position | 6007 | ||||||||||||||||
| cDNA position | 6007 | ||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||
| Speed | 0.06 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||
| Gene symbol | CACNA1C | |||||||||||||
| Gene constraints | LOEUF: 0.18, LOF (oe): 0.13, misssense (oe): 0.59, synonymous (oe): 1.00 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000683840.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.6130G>A g.717931G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Wildtype AA sequence | MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | |||||||||||||
| Mutated AA sequence | MLRAFVQPGT PAYQPLPSHL SANTEVKFKG TLVHEAQLNY FYISPGGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPISLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6507 / 6507 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2169 / 2169 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6523 / 6523 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 17 / 17 | |||||||||||||
| Last intron/exon boundary | 6223 | |||||||||||||
| Theoretical NMD boundary in CDS | 6156 | |||||||||||||
| Length of CDS | 6507 | |||||||||||||
| Coding sequence (CDS) position | 6130 | |||||||||||||
| cDNA position | 6146 | |||||||||||||
| gDNA position | 717931 | |||||||||||||
| Chromosomal position | 2688702 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||
| Gene symbol | CACNA1C | |||||||||||||
| Gene constraints | LOEUF: 0.19, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000335762.10 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.6115G>A g.717931G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNRGTPAGM LDQKKGKFAW FSHSTETHVS MPTSETESVN TENVAGGDIE GENCGARLAH RISKSKFSRY WRRWNRFCRR KCRAAVKSNV FYWLVIFLVF LNTLTIASEH YNQPNWLTEV QDTANKALLA LFTAEMLLKM YSLGLQAYFV SLFNRFDCFV VCGGILETIL VETKIMSPLG ISVLRCVRLL RIFKITRYWN SLSNLVASLL NSVRSIASLL LLLFLFIIIF SLLGMQLFGG KFNFDEMQTR RSTFDNFPQS LLTVFQILTG EDWNSVMYDG IMAYGGPSFP GMLVCIYFII LFICGNYILL NVFLAIAVDN LADAESLTSA QKEEEEEKER KKLARTASPE KKQELVEKPA VGESKEEKIE LKSITADGES PPATKINMDD LQPNENEDKS PYPNPETTGE EDEEEPEMPV GPRPRPLSEL HLKEKAVPMP EASAFFIFSS NNRFRLQCHR IVNDTIFTNL ILFFILLSSI SLAAEDPVQH TSFRNHILFY FDIVFTTIFT IEIALKMTAY GAFLHKGSFC RNYFNILDLL VVSVSLISFG IQSSAINVVK ILRVLRVLRP LRAINRAKGL KHVVQCVFVA IRTIGNIVIV TTLLQFMFAC IGVQLFKGKL YTCSDSSKQT EAECKGNYIT YKDGEVDHPI IQPRSWENSK FDFDNVLAAM MALFTVSTFE GWPELLYRSI DSHTEDKGPI YNYRVEISIF FIIYIIIIAF FMMNIFVGFV IVTFQEQGEQ EYKNCELDKN QRQCVEYALK ARPLRRYIPK NQHQYKVWYV VNSTYFEYLM FVLILLNTIC LAMQHYGQSC LFKIAMNILN MLFTGLFTVE MILKLIAFKP KHYFCDAWNT FDALIVVGSI VDIAITEVNP AEHTQCSPSM NAEENSRISI TFFRLFRVMR LVKLLSRGEG IRTLLWTFIK SFQALPYVAL LIVMLFFIYA VIGMQVFGKI ALNDTTEINR NNNFQTFPQA VLLLFRCATG EAWQDIMLAC MPGKKCAPES EPSNSTEGET PCGSSFAVFY FISFYMLCAF LIINLFVAVI MDNFDYLTRD WSILGPHHLD EFKRIWAEYD PEAKGRIKHL DVVTLLRRIQ PPLGFGKLCP HRVACKRLVS MNMPLNSDGT VMFNATLFAL VRTALRIKTE GNLEQANEEL RAIIKKIWKR TSMKLLDQVV PPAGDDEVTV GKFYATFLIQ EYFRKFKKRK EQGLVGKPSQ RNALSLQAGL RTLHDIGPEI RRAISGDLTA EEELDKAMKE AVSAASEDDI FRRAGGLFGN HVSYYQSDGR SAFPQTFTTQ RPLHINKAGS SQGDTESPSH EKLVDSTFTP SSYSSTGSNA NINNANNTAL GRLPRPAGYP STVSTVEGHG PPLSPAIRVQ EVAWKLSSNR CHSRESQAAM AGQEETSQDE TYEVKMNHDT EACSEPSLLS TEMLSYQDDE NRQLTLPEED KRDIRQSPKR GFLRSASLGR RASFHLECLK RQKDRGGDIS QKTVLPLHLV HHQALAVAGL SPLLQRSHSP ASFPRPFATP PATPGSRGWP PQPVPTLRLE GVESSEKLNS SFPSIHCGSW AETTPGGGGS SAARRVRPVS LMVPSQAGAP GRQFHGSASS LVEAVLISEG LGQFAQDPKF IEVTTQELAD ACDMTIEEME SAADNILSGG APQSPNGALL PFVNCRDAGQ DRAGGEEDAG CVRARGRPSE EELQDSRVYV SSL* | |||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNRGTPAGM LDQKKGKFAW FSHSTETHVS MPTSETESVN TENVAGGDIE GENCGARLAH RISKSKFSRY WRRWNRFCRR KCRAAVKSNV FYWLVIFLVF LNTLTIASEH YNQPNWLTEV QDTANKALLA LFTAEMLLKM YSLGLQAYFV SLFNRFDCFV VCGGILETIL VETKIMSPLG ISVLRCVRLL RIFKITRYWN SLSNLVASLL NSVRSIASLL LLLFLFIIIF SLLGMQLFGG KFNFDEMQTR RSTFDNFPQS LLTVFQILTG EDWNSVMYDG IMAYGGPSFP GMLVCIYFII LFICGNYILL NVFLAIAVDN LADAESLTSA QKEEEEEKER KKLARTASPE KKQELVEKPA VGESKEEKIE LKSITADGES PPATKINMDD LQPNENEDKS PYPNPETTGE EDEEEPEMPV GPRPRPLSEL HLKEKAVPMP EASAFFIFSS NNRFRLQCHR IVNDTIFTNL ILFFILLSSI SLAAEDPVQH TSFRNHILFY FDIVFTTIFT IEIALKMTAY GAFLHKGSFC RNYFNILDLL VVSVSLISFG IQSSAINVVK ILRVLRVLRP LRAINRAKGL KHVVQCVFVA IRTIGNIVIV TTLLQFMFAC IGVQLFKGKL YTCSDSSKQT EAECKGNYIT YKDGEVDHPI IQPRSWENSK FDFDNVLAAM MALFTVSTFE GWPELLYRSI DSHTEDKGPI YNYRVEISIF FIIYIIIIAF FMMNIFVGFV IVTFQEQGEQ EYKNCELDKN QRQCVEYALK ARPLRRYIPK NQHQYKVWYV VNSTYFEYLM FVLILLNTIC LAMQHYGQSC LFKIAMNILN MLFTGLFTVE MILKLIAFKP KHYFCDAWNT FDALIVVGSI VDIAITEVNP AEHTQCSPSM NAEENSRISI TFFRLFRVMR LVKLLSRGEG IRTLLWTFIK SFQALPYVAL LIVMLFFIYA VIGMQVFGKI ALNDTTEINR NNNFQTFPQA VLLLFRCATG EAWQDIMLAC MPGKKCAPES EPSNSTEGET PCGSSFAVFY FISFYMLCAF LIINLFVAVI MDNFDYLTRD WSILGPHHLD EFKRIWAEYD PEAKGRIKHL DVVTLLRRIQ PPLGFGKLCP HRVACKRLVS MNMPLNSDGT VMFNATLFAL VRTALRIKTE GNLEQANEEL RAIIKKIWKR TSMKLLDQVV PPAGDDEVTV GKFYATFLIQ EYFRKFKKRK EQGLVGKPSQ RNALSLQAGL RTLHDIGPEI RRAISGDLTA EEELDKAMKE AVSAASEDDI FRRAGGLFGN HVSYYQSDGR SAFPQTFTTQ RPLHINKAGS SQGDTESPSH EKLVDSTFTP SSYSSTGSNA NINNANNTAL GRLPRPAGYP STVSTVEGHG PPLSPAIRVQ EVAWKLSSNR CHSRESQAAM AGQEETSQDE TYEVKMNHDT EACSEPSLLS TEMLSYQDDE NRQLTLPEED KRDIRQSPKR GFLRSASLGR RASFHLECLK RQKDRGGDIS QKTVLPLHLV HHQALAVAGL SPLLQRSHSP ASFPRPFATP PATPGSRGWP PQPVPTLRLE GVESSEKLNS SFPSIHCGSW AETTPGGGGS SAARRVRPIS LMVPSQAGAP GRQFHGSASS LVEAVLISEG LGQFAQDPKF IEVTTQELAD ACDMTIEEME SAADNILSGG APQSPNGALL PFVNCRDAGQ DRAGGEEDAG CVRARGRPSE EELQDSRVYV SSL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6492 / 6492 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2164 / 2164 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 7047 / 7047 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 556 / 556 | |||||||||||||
| Last intron/exon boundary | 6747 | |||||||||||||
| Theoretical NMD boundary in CDS | 6141 | |||||||||||||
| Length of CDS | 6492 | |||||||||||||
| Coding sequence (CDS) position | 6115 | |||||||||||||
| cDNA position | 6670 | |||||||||||||
| gDNA position | 717931 | |||||||||||||
| Chromosomal position | 2688702 | |||||||||||||
| Speed | 0.06 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||||||||||||
| Gene constraints | LOEUF: 0.20, LOF (oe): 0.14, misssense (oe): 0.60, synonymous (oe): 0.99 (gnomAD) | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000399637.5 | ||||||||||||||||||||||||||
| Genbank transcript ID | NM_001129835 (by similarity) | ||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.6097G>A g.717931G>A | ||||||||||||||||||||||||||
| AA changes |
| ||||||||||||||||||||||||||
| Frameshift | No | ||||||||||||||||||||||||||
| Length of protein | Normal | ||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||||||||||||
| Variant DBs |
| ||||||||||||||||||||||||||
| Protein conservation | |||||||||||||||||||||||||||
| Protein features |
| ||||||||||||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 12 | ||||||||||||||||||||||||||
| Strand | 1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEEGPSP SEAHQGAEDP FRPAGNLEQA NEELRAIIKK IWKRTSMKLL DQVVPPAGDD EVTVGKFYAT FLIQEYFRKF KKRKEQGLVG KPSQRNALSL QAGLRTLHDI GPEIRRAISG DLTAEEELDK AMKEAVSAAS EDDIFRRAGG LFGNHVSYYQ SDGRSAFPQT FTTQRPLHIN KAGSSQGDTE SPSHEKLVDS TFTPSSYSST GSNANINNAN NTALGRLPRP AGYPSTVSTV EGHGPPLSPA IRVQEVAWKL SSNRCHSRES QAAMAGQEET SQDETYEVKM NHDTEACSEP SLLSTEMLSY QDDENRQLTL PEEDKRDIRQ SPKRGFLRSA SLGRRASFHL ECLKRQKDRG GDISQKTVLP LHLVHHQALA VAGLSPLLQR SHSPASFPRP FATPPATPGS RGWPPQPVPT LRLEGVESSE KLNSSFPSIH CGSWAETTPG GGGSSAARRV RPVSLMVPSQ AGAPGRQFHG SASSLVEAVL ISEGLGQFAQ DPKFIEVTTQ ELADACDMTI EEMESAADNI LSGGAPQSPN GALLPFVNCR DAGQDRAGGE EDAGCVRARG RPSEEELQDS RVYVSSL* | ||||||||||||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEEGPSP SEAHQGAEDP FRPAGNLEQA NEELRAIIKK IWKRTSMKLL DQVVPPAGDD EVTVGKFYAT FLIQEYFRKF KKRKEQGLVG KPSQRNALSL QAGLRTLHDI GPEIRRAISG DLTAEEELDK AMKEAVSAAS EDDIFRRAGG LFGNHVSYYQ SDGRSAFPQT FTTQRPLHIN KAGSSQGDTE SPSHEKLVDS TFTPSSYSST GSNANINNAN NTALGRLPRP AGYPSTVSTV EGHGPPLSPA IRVQEVAWKL SSNRCHSRES QAAMAGQEET SQDETYEVKM NHDTEACSEP SLLSTEMLSY QDDENRQLTL PEEDKRDIRQ SPKRGFLRSA SLGRRASFHL ECLKRQKDRG GDISQKTVLP LHLVHHQALA VAGLSPLLQR SHSPASFPRP FATPPATPGS RGWPPQPVPT LRLEGVESSE KLNSSFPSIH CGSWAETTPG GGGSSAARRV RPISLMVPSQ AGAPGRQFHG SASSLVEAVL ISEGLGQFAQ DPKFIEVTTQ ELADACDMTI EEMESAADNI LSGGAPQSPN GALLPFVNCR DAGQDRAGGE EDAGCVRARG RPSEEELQDS RVYVSSL* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6474 / 6474 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2158 / 2158 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6474 / 6474 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 6174 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 6123 | ||||||||||||||||||||||||||
| Length of CDS | 6474 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 6097 | ||||||||||||||||||||||||||
| cDNA position | 6097 | ||||||||||||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||||||||||||
| Speed | 0.05 s | ||||||||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||
| Gene symbol | CACNA1C | |||||||||||||
| Gene constraints | LOEUF: 0.18, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000327702.12 | |||||||||||||
| Genbank transcript ID | NM_001129830 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.6145G>A g.717931G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRERHVP MCEDLELRRD SGSAGTQAHC LLLRRANPSR CHSRESQAAM AGQEETSQDE TYEVKMNHDT EACSEPSLLS TEMLSYQDDE NRQLTLPEED KRDIRQSPKR GFLRSASLGR RASFHLECLK RQKDRGGDIS QKTVLPLHLV HHQALAVAGL SPLLQRSHSP ASFPRPFATP PATPGSRGWP PQPVPTLRLE GVESSEKLNS SFPSIHCGSW AETTPGGGGS SAARRVRPVS LMVPSQAGAP GRQFHGSASS LVEAVLISEG LGQFAQDPKF IEVTTQELAD ACDMTIEEME SAADNILSGG APQSPNGALL PFVNCRDAGQ DRAGGEEDAG CVRARGRPSE EELQDSRVYV SSL* | |||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRERHVP MCEDLELRRD SGSAGTQAHC LLLRRANPSR CHSRESQAAM AGQEETSQDE TYEVKMNHDT EACSEPSLLS TEMLSYQDDE NRQLTLPEED KRDIRQSPKR GFLRSASLGR RASFHLECLK RQKDRGGDIS QKTVLPLHLV HHQALAVAGL SPLLQRSHSP ASFPRPFATP PATPGSRGWP PQPVPTLRLE GVESSEKLNS SFPSIHCGSW AETTPGGGGS SAARRVRPIS LMVPSQAGAP GRQFHGSASS LVEAVLISEG LGQFAQDPKF IEVTTQELAD ACDMTIEEME SAADNILSGG APQSPNGALL PFVNCRDAGQ DRAGGEEDAG CVRARGRPSE EELQDSRVYV SSL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6522 / 6522 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2174 / 2174 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 7098 / 7098 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 577 / 577 | |||||||||||||
| Last intron/exon boundary | 6798 | |||||||||||||
| Theoretical NMD boundary in CDS | 6171 | |||||||||||||
| Length of CDS | 6522 | |||||||||||||
| Coding sequence (CDS) position | 6145 | |||||||||||||
| cDNA position | 6721 | |||||||||||||
| gDNA position | 717931 | |||||||||||||
| Chromosomal position | 2688702 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||
| Gene constraints | LOEUF: 0.18, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000399601.5 | ||||||||||||||||
| Genbank transcript ID | NM_001129843 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.6040G>A g.717931G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 12 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | ||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPISLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6417 / 6417 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2139 / 2139 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6417 / 6417 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||
| Last intron/exon boundary | 6117 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 6066 | ||||||||||||||||
| Length of CDS | 6417 | ||||||||||||||||
| Coding sequence (CDS) position | 6040 | ||||||||||||||||
| cDNA position | 6040 | ||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||
| Speed | 0.06 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||
| Gene constraints | LOEUF: 0.18, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000399644.5 | ||||||||||||||||
| Genbank transcript ID | NM_001129841 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.6040G>A g.717931G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 12 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | ||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WVNDAVGRDW PWIYFVTLII IGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPISLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6417 / 6417 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2139 / 2139 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6417 / 6417 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||
| Last intron/exon boundary | 6117 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 6066 | ||||||||||||||||
| Length of CDS | 6417 | ||||||||||||||||
| Coding sequence (CDS) position | 6040 | ||||||||||||||||
| cDNA position | 6040 | ||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||
| Speed | 0.06 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | ||||||||||||||||
| Gene symbol | CACNA1C | ||||||||||||||||
| Gene constraints | LOEUF: 0.18, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000399641.6 | ||||||||||||||||
| Genbank transcript ID | NM_001129840 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | CAC1C_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.6040G>A g.717931G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 12 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | ||||||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | ||||||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKHYFC DAWNTFDALI VVGSIVDIAI TEVNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPISLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 6417 / 6417 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2139 / 2139 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 6993 / 6993 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 577 / 577 | ||||||||||||||||
| Last intron/exon boundary | 6693 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 6066 | ||||||||||||||||
| Length of CDS | 6417 | ||||||||||||||||
| Coding sequence (CDS) position | 6040 | ||||||||||||||||
| cDNA position | 6616 | ||||||||||||||||
| gDNA position | 717931 | ||||||||||||||||
| Chromosomal position | 2688702 | ||||||||||||||||
| Speed | 0.06 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:2688702G>A (GRCh38) | |||||||||||||
| Gene symbol | CACNA1C | |||||||||||||
| Gene constraints | LOEUF: 0.18, LOF (oe): 0.13, misssense (oe): 0.60, synonymous (oe): 1.00 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000682835.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.6040G>A g.717931G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered gDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Original cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCGTCTCCCTCATGGTGCCCAGC | |||||||||||||
| Altered cDNA sequence snippet | CCGCCCGGAGAGTCCGGCCCATCTCCCTCATGGTGCCCAGC | |||||||||||||
| Wildtype AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPVSLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | |||||||||||||
| Mutated AA sequence | MVNENTRMYI PEENHQGSNY GSPRPAHANM NANAAAGLAP EHIPTPGAAL SWQAAIDAAR QAKLMGSAGN ATISTVSSTQ RKRQQYGKPK KQGSTTATRP PRALLCLTLK NPIRRACISI VEWKPFEIII LLTIFANCVA LAIYIPFPED DSNATNSNLE RVEYLFLIIF TVEAFLKVIA YGLLFHPNAY LRNGWNLLDF IIVVVGLFSA ILEQATKADG ANALGGKGAG FDVKALRAFR VLRPLRLVSG VPSLQVVLNS IIKAMVPLLH IALLVLFVII IYAIIGLELF MGKMHKTCYN QEGIADVPAE DDPSPCALET GHGRQCQNGT VCKPGWDGPK HGITNFDNFA FAMLTVFQCI TMEGWTDVLY WMQDAMGYEL PWVYFVSLVI FGSFFVLNLV LGVLSGEFSK EREKAKARGD FQKLREKQQL EEDLKGYLDW ITQAEDIDPE NEDEGMDEEK PRNMSMPTSE TESVNTENVA GGDIEGENCG ARLAHRISKS KFSRYWRRWN RFCRRKCRAA VKSNVFYWLV IFLVFLNTLT IASEHYNQPN WLTEVQDTAN KALLALFTAE MLLKMYSLGL QAYFVSLFNR FDCFVVCGGI LETILVETKI MSPLGISVLR CVRLLRIFKI TRYWNSLSNL VASLLNSVRS IASLLLLLFL FIIIFSLLGM QLFGGKFNFD EMQTRRSTFD NFPQSLLTVF QILTGEDWNS VMYDGIMAYG GPSFPGMLVC IYFIILFICG NYILLNVFLA IAVDNLADAE SLTSAQKEEE EEKERKKLAR TASPEKKQEL VEKPAVGESK EEKIELKSIT ADGESPPATK INMDDLQPNE NEDKSPYPNP ETTGEEDEEE PEMPVGPRPR PLSELHLKEK AVPMPEASAF FIFSSNNRFR LQCHRIVNDT IFTNLILFFI LLSSISLAAE DPVQHTSFRN HILGNADYVF TSIFTLEIIL KMTAYGAFLH KGSFCRNYFN ILDLLVVSVS LISFGIQSSA INVVKILRVL RVLRPLRAIN RAKGLKHVVQ CVFVAIRTIG NIVIVTTLLQ FMFACIGVQL FKGKLYTCSD SSKQTEAECK GNYITYKDGE VDHPIIQPRS WENSKFDFDN VLAAMMALFT VSTFEGWPEL LYRSIDSHTE DKGPIYNYRV EISIFFIIYI IIIAFFMMNI FVGFVIVTFQ EQGEQEYKNC ELDKNQRQCV EYALKARPLR RYIPKNQHQY KVWYVVNSTY FEYLMFVLIL LNTICLAMQH YGQSCLFKIA MNILNMLFTG LFTVEMILKL IAFKPKGYFS DPWNVFDFLI VIGSIIDVIL SETNPAEHTQ CSPSMNAEEN SRISITFFRL FRVMRLVKLL SRGEGIRTLL WTFIKSFQAL PYVALLIVML FFIYAVIGMQ VFGKIALNDT TEINRNNNFQ TFPQAVLLLF RCATGEAWQD IMLACMPGKK CAPESEPSNS TEGETPCGSS FAVFYFISFY MLCAFLIINL FVAVIMDNFD YLTRDWSILG PHHLDEFKRI WAEYDPEAKG RIKHLDVVTL LRRIQPPLGF GKLCPHRVAC KRLVSMNMPL NSDGTVMFNA TLFALVRTAL RIKTEGNLEQ ANEELRAIIK KIWKRTSMKL LDQVVPPAGD DEVTVGKFYA TFLIQEYFRK FKKRKEQGLV GKPSQRNALS LQAGLRTLHD IGPEIRRAIS GDLTAEEELD KAMKEAVSAA SEDDIFRRAG GLFGNHVSYY QSDGRSAFPQ TFTTQRPLHI NKAGSSQGDT ESPSHEKLVD STFTPSSYSS TGSNANINNA NNTALGRLPR PAGYPSTVST VEGHGPPLSP AIRVQEVAWK LSSNRCHSRE SQAAMAGQEE TSQDETYEVK MNHDTEACSE PSLLSTEMLS YQDDENRQLT LPEEDKRDIR QSPKRGFLRS ASLGRRASFH LECLKRQKDR GGDISQKTVL PLHLVHHQAL AVAGLSPLLQ RSHSPASFPR PFATPPATPG SRGWPPQPVP TLRLEGVESS EKLNSSFPSI HCGSWAETTP GGGGSSAARR VRPISLMVPS QAGAPGRQFH GSASSLVEAV LISEGLGQFA QDPKFIEVTT QELADACDMT IEEMESAADN ILSGGAPQSP NGALLPFVNC RDAGQDRAGG EEDAGCVRAR GRPSEEELQD SRVYVSSL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 6417 / 6417 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 2139 / 2139 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6964 / 6964 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 548 / 548 | |||||||||||||
| Last intron/exon boundary | 6664 | |||||||||||||
| Theoretical NMD boundary in CDS | 6066 | |||||||||||||
| Length of CDS | 6417 | |||||||||||||
| Coding sequence (CDS) position | 6040 | |||||||||||||
| cDNA position | 6587 | |||||||||||||
| gDNA position | 717931 | |||||||||||||
| Chromosomal position | 2688702 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project