| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MICAL2 | Deleterious | 54|46 | simple_ | No | Single base exchange | Normal |
| ||||||
ENST00000683283(MANE Select) | MICAL2 | Deleterious | 68|32 | simple_ | No | Single base exchange | Normal |
| |||||
| MICAL2 | Deleterious | 76|24 | simple_ | No | Single base exchange | Normal |
| ||||||
| MICAL2 | Deleterious | 77|23 | simple_ | No | Single base exchange | Normal |
| ||||||
| MICAL2 | Deleterious | 79|21 | simple_ | No | Single base exchange | Normal |
| ||||||
| MICAL2 | Deleterious | 81|19 | simple_ | No | Single base exchange | Normal |
| ||||||
| MICAL2 | Deleterious | 81|19 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:12162186C>A (GRCh38) | ||||||||||||||||
| Gene symbol | MICAL2 | ||||||||||||||||
| Gene constraints | no data | ||||||||||||||||
| Ensembl transcript ID | ENST00000707072.1 | ||||||||||||||||
| Genbank transcript ID | NM_001282666 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | MICA2_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.31C>A g.68179C>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 | 11 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | ACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Altered gDNA sequence snippet | ACGAGGATGAGAAGCAGGCCAAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Original cDNA sequence snippet | ACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Altered cDNA sequence snippet | ACGAGGATGAGAAGCAGGCCAAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Wildtype AA sequence | MGENEDEKQA QAGQVFENFV QASTCKGTLQ AFNILTRHLD LDPLDHRNFY SKLKSKVTTW KAKALWYKLD KRGSHKEYKR GKSCTNTKCL IVGGGPCGLR TAIELAYLGA KVVVVEKRDS FSRNNVLHLW PFTIHDLRGL GAKKFYGKFC AGSIDHISIR QLQLILFKVA LMLGVEIHVN VEFVKVLEPP EDQENQKIGW RAEFLPTDHS LSEFEFDVII GADGRRNTLE GFRRKEFRGK LAIAITANFI NRNSTAEAKV EEISGVAFIF NQKFFQDLKE ETGIDLENIV YYKDCTHYFV MTAKKQSLLD KGVIINDYID TEMLLCAENV NQDNLLSYAR EAADFATNYQ LPSLDFAMNH YGQPDVAMFD FTCMYASENA ALVRERQAHQ LLVALVGDSL LEPFWPMGTG CARGFLAAFD TAWMVKSWNQ GTPPLELLAE RESLYRLLPQ TTPENINKNF EQYTLDPGTR YPNLNSHCVR PHQVKHLYIT KELEHYPLER LGSVRRSVNL SRKESDIRPS KLLTWCQQQT EGYQHVNVTD LTTSWRSGLA LCAIIHRFRP ELINFDSLNE DDAVENNQLA FDVAEREFGI PPVTTGKEMA SAQEPDKLSM VMYLSKFYEL FRGTPLRPVD SWRKNYGENA DLSLAKSSIS NNYLNLTFPR KRTPRVDGQT GENDMNKRRR KGFTNLDEPS NFSSRSLGSN QECGSSKEGG NQNKVKSMAN QLLAKFEEST RNPSLMKQEK KSPSGFHFHP SHLRTVHPQE SMRKSFPLNL GGSDTCYFCK KRVYVMERLS AEGHFFHREC FRCSICATTL RLAAYTFDCD EGKFYCKPHF IHCKTNSKQR KRRAELKQQR EEEATWQEQE APRRDTPTES SCAVAAIGTL EGSPPGISTS FFRKVLGWPL RLPRDLCNWM QGLLQAAGLH IRDNAYNYCY MYELLSLGLP LLWAFSEVLA AMYRESEGSL ESICNWVLRC FPVKLR* | ||||||||||||||||
| Mutated AA sequence | MGENEDEKQA KAGQVFENFV QASTCKGTLQ AFNILTRHLD LDPLDHRNFY SKLKSKVTTW KAKALWYKLD KRGSHKEYKR GKSCTNTKCL IVGGGPCGLR TAIELAYLGA KVVVVEKRDS FSRNNVLHLW PFTIHDLRGL GAKKFYGKFC AGSIDHISIR QLQLILFKVA LMLGVEIHVN VEFVKVLEPP EDQENQKIGW RAEFLPTDHS LSEFEFDVII GADGRRNTLE GFRRKEFRGK LAIAITANFI NRNSTAEAKV EEISGVAFIF NQKFFQDLKE ETGIDLENIV YYKDCTHYFV MTAKKQSLLD KGVIINDYID TEMLLCAENV NQDNLLSYAR EAADFATNYQ LPSLDFAMNH YGQPDVAMFD FTCMYASENA ALVRERQAHQ LLVALVGDSL LEPFWPMGTG CARGFLAAFD TAWMVKSWNQ GTPPLELLAE RESLYRLLPQ TTPENINKNF EQYTLDPGTR YPNLNSHCVR PHQVKHLYIT KELEHYPLER LGSVRRSVNL SRKESDIRPS KLLTWCQQQT EGYQHVNVTD LTTSWRSGLA LCAIIHRFRP ELINFDSLNE DDAVENNQLA FDVAEREFGI PPVTTGKEMA SAQEPDKLSM VMYLSKFYEL FRGTPLRPVD SWRKNYGENA DLSLAKSSIS NNYLNLTFPR KRTPRVDGQT GENDMNKRRR KGFTNLDEPS NFSSRSLGSN QECGSSKEGG NQNKVKSMAN QLLAKFEEST RNPSLMKQEK KSPSGFHFHP SHLRTVHPQE SMRKSFPLNL GGSDTCYFCK KRVYVMERLS AEGHFFHREC FRCSICATTL RLAAYTFDCD EGKFYCKPHF IHCKTNSKQR KRRAELKQQR EEEATWQEQE APRRDTPTES SCAVAAIGTL EGSPPGISTS FFRKVLGWPL RLPRDLCNWM QGLLQAAGLH IRDNAYNYCY MYELLSLGLP LLWAFSEVLA AMYRESEGSL ESICNWVLRC FPVKLR* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2931 / 2931 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 977 / 977 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3198 / 3198 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 268 / 268 | ||||||||||||||||
| Last intron/exon boundary | 2820 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2502 | ||||||||||||||||
| Length of CDS | 2931 | ||||||||||||||||
| Coding sequence (CDS) position | 31 | ||||||||||||||||
| cDNA position | 298 | ||||||||||||||||
| gDNA position | 68179 | ||||||||||||||||
| Chromosomal position | 12162186 | ||||||||||||||||
| Speed | 0.32 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 | Chr11:12162186C>A (GRCh38) | ||||||||||||||||
| Gene symbol | MICAL2 | ||||||||||||||||
| Gene constraints | LOEUF: 0.71, LOF (oe): 0.59, misssense (oe): 0.90, synonymous (oe): 0.98 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000683283.1 | ||||||||||||||||
| Genbank transcript ID | NM_001282663 (exact from MANE), NM_001346292 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | MICA2_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.31C>A g.68179C>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 | 11 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | ACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Altered gDNA sequence snippet | ACGAGGATGAGAAGCAGGCCAAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Original cDNA sequence snippet | ACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Altered cDNA sequence snippet | ACGAGGATGAGAAGCAGGCCAAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Wildtype AA sequence | MGENEDEKQA QAGQVFENFV QASTCKGTLQ AFNILTRHLD LDPLDHRNFY SKLKSKVTTW KAKALWYKLD KRGSHKEYKR GKSCTNTKCL IVGGGPCGLR TAIELAYLGA KVVVVEKRDS FSRNNVLHLW PFTIHDLRGL GAKKFYGKFC AGSIDHISIR QLQLILFKVA LMLGVEIHVN VEFVKVLEPP EDQENQKIGW RAEFLPTDHS LSEFEFDVII GADGRRNTLE GFRRKEFRGK LAIAITANFI NRNSTAEAKV EEISGVAFIF NQKFFQDLKE ETGIDLENIV YYKDCTHYFV MTAKKQSLLD KGVIINDYID TEMLLCAENV NQDNLLSYAR EAADFATNYQ LPSLDFAMNH YGQPDVAMFD FTCMYASENA ALVRERQAHQ LLVALVGDSL LEPFWPMGTG CARGFLAAFD TAWMVKSWNQ GTPPLELLAE RESLYRLLPQ TTPENINKNF EQYTLDPGTR YPNLNSHCVR PHQVKHLYIT KELEHYPLER LGSVRRSVNL SRKESDIRPS KLLTWCQQQT EGYQHVNVTD LTTSWRSGLA LCAIIHRFRP ELINFDSLNE DDAVENNQLA FDVAEREFGI PPVTTGKEMA SAQEPDKLSM VMYLSKFYEL FRGTPLRPVD SWRKNYGENA DLSLAKSSIS NNYLNLTFPR KRTPRVDGQT GENDMNKRRR KGFTNLDEPS NFSSRSLGSN QECGSSKEGG NQNKVKSMAN QLLAKFEEST RNPSLMKQER RVSGIGKPVL CSSSGPPVHS CCPKPEEATP SPSPPLKRQF PSVVVTGHVL RELKQVSAGS ECLSRPWRAR AKSDLQLGGT ENFATLPSTR PRAQALSGVL WRLQQVEEKI LQKRAQNLAN REFHTKNIKE KAAHLASMFG HGDFPQNKLL SKGLSHTHPP SPPSRLPSPD PAASSSPSTV DSASPARKEK KSPSGFHFHP SHLRTVHPQL TVGKVSSGIG AAAEVLVNLY MNDHRPKAQA TSPDLESMRK SFPLNLGGSD TCYFCKKRVY VMERLSAEGH FFHRECFRCS ICATTLRLAA YTFDCDEGKF YCKPHFIHCK TNSKQRKRRA ELKQQREEEA TWQEQEAPRR DTPTESSCAV AAIGTLEGSP PVHFSLPVLH PLLG* | ||||||||||||||||
| Mutated AA sequence | MGENEDEKQA KAGQVFENFV QASTCKGTLQ AFNILTRHLD LDPLDHRNFY SKLKSKVTTW KAKALWYKLD KRGSHKEYKR GKSCTNTKCL IVGGGPCGLR TAIELAYLGA KVVVVEKRDS FSRNNVLHLW PFTIHDLRGL GAKKFYGKFC AGSIDHISIR QLQLILFKVA LMLGVEIHVN VEFVKVLEPP EDQENQKIGW RAEFLPTDHS LSEFEFDVII GADGRRNTLE GFRRKEFRGK LAIAITANFI NRNSTAEAKV EEISGVAFIF NQKFFQDLKE ETGIDLENIV YYKDCTHYFV MTAKKQSLLD KGVIINDYID TEMLLCAENV NQDNLLSYAR EAADFATNYQ LPSLDFAMNH YGQPDVAMFD FTCMYASENA ALVRERQAHQ LLVALVGDSL LEPFWPMGTG CARGFLAAFD TAWMVKSWNQ GTPPLELLAE RESLYRLLPQ TTPENINKNF EQYTLDPGTR YPNLNSHCVR PHQVKHLYIT KELEHYPLER LGSVRRSVNL SRKESDIRPS KLLTWCQQQT EGYQHVNVTD LTTSWRSGLA LCAIIHRFRP ELINFDSLNE DDAVENNQLA FDVAEREFGI PPVTTGKEMA SAQEPDKLSM VMYLSKFYEL FRGTPLRPVD SWRKNYGENA DLSLAKSSIS NNYLNLTFPR KRTPRVDGQT GENDMNKRRR KGFTNLDEPS NFSSRSLGSN QECGSSKEGG NQNKVKSMAN QLLAKFEEST RNPSLMKQER RVSGIGKPVL CSSSGPPVHS CCPKPEEATP SPSPPLKRQF PSVVVTGHVL RELKQVSAGS ECLSRPWRAR AKSDLQLGGT ENFATLPSTR PRAQALSGVL WRLQQVEEKI LQKRAQNLAN REFHTKNIKE KAAHLASMFG HGDFPQNKLL SKGLSHTHPP SPPSRLPSPD PAASSSPSTV DSASPARKEK KSPSGFHFHP SHLRTVHPQL TVGKVSSGIG AAAEVLVNLY MNDHRPKAQA TSPDLESMRK SFPLNLGGSD TCYFCKKRVY VMERLSAEGH FFHRECFRCS ICATTLRLAA YTFDCDEGKF YCKPHFIHCK TNSKQRKRRA ELKQQREEEA TWQEQEAPRR DTPTESSCAV AAIGTLEGSP PVHFSLPVLH PLLG* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3375 / 3375 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1125 / 1125 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3660 / 3660 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 286 / 286 | ||||||||||||||||
| Last intron/exon boundary | 3677 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 3341 | ||||||||||||||||
| Length of CDS | 3375 | ||||||||||||||||
| Coding sequence (CDS) position | 31 | ||||||||||||||||
| cDNA position | 316 | ||||||||||||||||
| gDNA position | 68179 | ||||||||||||||||
| Chromosomal position | 12162186 | ||||||||||||||||
| Speed | 0.45 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 | Chr11:12162186C>A (GRCh38) | ||||||||||||||||
| Gene symbol | MICAL2 | ||||||||||||||||
| Gene constraints | LOEUF: 0.70, LOF (oe): 0.56, misssense (oe): 0.87, synonymous (oe): 0.99 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000527546.5 | ||||||||||||||||
| Genbank transcript ID | NM_001282665 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | MICA2_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.31C>A g.68179C>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 | 11 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | ACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Altered gDNA sequence snippet | ACGAGGATGAGAAGCAGGCCAAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Original cDNA sequence snippet | ACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Altered cDNA sequence snippet | ACGAGGATGAGAAGCAGGCCAAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Wildtype AA sequence | MGENEDEKQA QAGQVFENFV QASTCKGTLQ AFNILTRHLD LDPLDHRNFY SKLKSKVTTW KAKALWYKLD KRGSHKEYKR GKSCTNTKCL IVGGGPCGLR TAIELAYLGA KVVVVEKRDS FSRNNVLHLW PFTIHDLRGL GAKKFYGKFC AGSIDHISIR QLQLILFKVA LMLGVEIHVN VEFVKVLEPP EDQENQKIGW RAEFLPTDHS LSEFEFDVII GADGRRNTLE GFRRKEFRGK LAIAITANFI NRNSTAEAKV EEISGVAFIF NQKFFQDLKE ETGIDLENIV YYKDCTHYFV MTAKKQSLLD KGVIINDYID TEMLLCAENV NQDNLLSYAR EAADFATNYQ LPSLDFAMNH YGQPDVAMFD FTCMYASENA ALVRERQAHQ LLVALVGDSL LEPFWPMGTG CARGFLAAFD TAWMVKSWNQ GTPPLELLAE RESLYRLLPQ TTPENINKNF EQYTLDPGTR YPNLNSHCVR PHQVKHLYIT KELEHYPLER LGSVRRSVNL SRKESDIRPS KLLTWCQQQT EGYQHVNVTD LTTSWRSGLA LCAIIHRFRP ELINFDSLNE DDAVENNQLA FDVAEREFGI PPVTTGKEMA SAQEPDKLSM VMYLSKFYEL FRGTPLRPVD SWRKNYGENA DLSLAKSSIS NNYLNLTFPR KRTPRVDGQT GENDMNKRRR KGFTNLDEPS NFSSRSLGSN QECGSSKEGG NQNKVKSMAN QLLAKFEEST RNPSLMKQEK KSPSGFHFHP SHLRTVHPQL TVGKVSSGIG AAAEVLVNLY MNDHRPKAQA TSPDLESMRK SFPLNLGGSD TCYFCKKRVY VMERLSAEGH FFHRECFRCS ICATTLRLAA YTFDCDEGKF YCKPHFIHCK TNSKQRKRRA ELKQQREEEA TWQEQEAPRR DTPTESSCAV AAIGTLEGSP PVHFSLPVLH PLLG* | ||||||||||||||||
| Mutated AA sequence | MGENEDEKQA KAGQVFENFV QASTCKGTLQ AFNILTRHLD LDPLDHRNFY SKLKSKVTTW KAKALWYKLD KRGSHKEYKR GKSCTNTKCL IVGGGPCGLR TAIELAYLGA KVVVVEKRDS FSRNNVLHLW PFTIHDLRGL GAKKFYGKFC AGSIDHISIR QLQLILFKVA LMLGVEIHVN VEFVKVLEPP EDQENQKIGW RAEFLPTDHS LSEFEFDVII GADGRRNTLE GFRRKEFRGK LAIAITANFI NRNSTAEAKV EEISGVAFIF NQKFFQDLKE ETGIDLENIV YYKDCTHYFV MTAKKQSLLD KGVIINDYID TEMLLCAENV NQDNLLSYAR EAADFATNYQ LPSLDFAMNH YGQPDVAMFD FTCMYASENA ALVRERQAHQ LLVALVGDSL LEPFWPMGTG CARGFLAAFD TAWMVKSWNQ GTPPLELLAE RESLYRLLPQ TTPENINKNF EQYTLDPGTR YPNLNSHCVR PHQVKHLYIT KELEHYPLER LGSVRRSVNL SRKESDIRPS KLLTWCQQQT EGYQHVNVTD LTTSWRSGLA LCAIIHRFRP ELINFDSLNE DDAVENNQLA FDVAEREFGI PPVTTGKEMA SAQEPDKLSM VMYLSKFYEL FRGTPLRPVD SWRKNYGENA DLSLAKSSIS NNYLNLTFPR KRTPRVDGQT GENDMNKRRR KGFTNLDEPS NFSSRSLGSN QECGSSKEGG NQNKVKSMAN QLLAKFEEST RNPSLMKQEK KSPSGFHFHP SHLRTVHPQL TVGKVSSGIG AAAEVLVNLY MNDHRPKAQA TSPDLESMRK SFPLNLGGSD TCYFCKKRVY VMERLSAEGH FFHRECFRCS ICATTLRLAA YTFDCDEGKF YCKPHFIHCK TNSKQRKRRA ELKQQREEEA TWQEQEAPRR DTPTESSCAV AAIGTLEGSP PVHFSLPVLH PLLG* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2805 / 2805 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 935 / 935 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2959 / 2959 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 155 / 155 | ||||||||||||||||
| Last intron/exon boundary | 2918 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2713 | ||||||||||||||||
| Length of CDS | 2805 | ||||||||||||||||
| Coding sequence (CDS) position | 31 | ||||||||||||||||
| cDNA position | 185 | ||||||||||||||||
| gDNA position | 68179 | ||||||||||||||||
| Chromosomal position | 12162186 | ||||||||||||||||
| Speed | 0.35 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 | Chr11:12162186C>A (GRCh38) | ||||||||||||||||
| Gene symbol | MICAL2 | ||||||||||||||||
| Gene constraints | LOEUF: 0.73, LOF (oe): 0.60, misssense (oe): 0.90, synonymous (oe): 0.98 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000675839.1 | ||||||||||||||||
| Genbank transcript ID | NM_001346293 (by similarity), NM_001346297 (by similarity), NM_001346295 (by similarity), NM_001346299 (by similarity), NM_001346296 (by similarity), NM_001346298 (by similarity), NM_001346294 (by similarity), NM_001282664 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | MICA2_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.31C>A g.68179C>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 | 11 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | ACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Altered gDNA sequence snippet | ACGAGGATGAGAAGCAGGCCAAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Original cDNA sequence snippet | ACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Altered cDNA sequence snippet | ACGAGGATGAGAAGCAGGCCAAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Wildtype AA sequence | MGENEDEKQA QAGQVFENFV QASTCKGTLQ AFNILTRHLD LDPLDHRNFY SKLKSKVTTW KAKALWYKLD KRGSHKEYKR GKSCTNTKCL IVGGGPCGLR TAIELAYLGA KVVVVEKRDS FSRNNVLHLW PFTIHDLRGL GAKKFYGKFC AGSIDHISIR QLQLILFKVA LMLGVEIHVN VEFVKVLEPP EDQENQKIGW RAEFLPTDHS LSEFEFDVII GADGRRNTLE GFRRKEFRGK LAIAITANFI NRNSTAEAKV EEISGVAFIF NQKFFQDLKE ETGIDLENIV YYKDCTHYFV MTAKKQSLLD KGVIINDYID TEMLLCAENV NQDNLLSYAR EAADFATNYQ LPSLDFAMNH YGQPDVAMFD FTCMYASENA ALVRERQAHQ LLVALVGDSL LEPFWPMGTG CARGFLAAFD TAWMVKSWNQ GTPPLELLAE RESLYRLLPQ TTPENINKNF EQYTLDPGTR YPNLNSHCVR PHQVKHLYIT KELEHYPLER LGSVRRSVNL SRKESDIRPS KLLTWCQQQT EGYQHVNVTD LTTSWRSGLA LCAIIHRFRP ELINFDSLNE DDAVENNQLA FDVAEREFGI PPVTTGKEMA SAQEPDKLSM VMYLSKFYEL FRGTPLRPVD SWRKNYGENA DLSLAKSSIS NNYLNLTFPR KRTPRVDGQT GENDMNKRRR KGFTNLDEPS NFSSRSLGSN QECGSSKEGG NQNKVKSMAN QLLAKFEEST RNPSLMKQER RVSGIGKPVL CSSSGPPVHS CCPKPEEATP SPSPPLKRQF PSVVVTGHVL RELKQVSAGS ECLSRPWRAR AKSDLQLGGT ENFATLPSTR PRAQALSGVL WRLQQVEEKI LQKRAQNLAN REFHTKNIKE KAAHLASMFG HGDFPQNKLL SKGLSHTHPP SPPSRLPSPD PAASSSPSTV DSASPARKLT VGKVSSGIGA AAEVLVNLYM NDHRPKAQAT SPDLESMRKS FPLNLGGSDT CYFCKKRVYV MERLSAEGHF FHRECFRCSI CATTLRLAAY TFDCDEGKFY CKPHFIHCKT NSKQRKRRAE LKQQREEEAT WQEQEAPRRD TPTESSCAVA AIGTLEGSPP VHFSLPVLHP LLG* | ||||||||||||||||
| Mutated AA sequence | MGENEDEKQA KAGQVFENFV QASTCKGTLQ AFNILTRHLD LDPLDHRNFY SKLKSKVTTW KAKALWYKLD KRGSHKEYKR GKSCTNTKCL IVGGGPCGLR TAIELAYLGA KVVVVEKRDS FSRNNVLHLW PFTIHDLRGL GAKKFYGKFC AGSIDHISIR QLQLILFKVA LMLGVEIHVN VEFVKVLEPP EDQENQKIGW RAEFLPTDHS LSEFEFDVII GADGRRNTLE GFRRKEFRGK LAIAITANFI NRNSTAEAKV EEISGVAFIF NQKFFQDLKE ETGIDLENIV YYKDCTHYFV MTAKKQSLLD KGVIINDYID TEMLLCAENV NQDNLLSYAR EAADFATNYQ LPSLDFAMNH YGQPDVAMFD FTCMYASENA ALVRERQAHQ LLVALVGDSL LEPFWPMGTG CARGFLAAFD TAWMVKSWNQ GTPPLELLAE RESLYRLLPQ TTPENINKNF EQYTLDPGTR YPNLNSHCVR PHQVKHLYIT KELEHYPLER LGSVRRSVNL SRKESDIRPS KLLTWCQQQT EGYQHVNVTD LTTSWRSGLA LCAIIHRFRP ELINFDSLNE DDAVENNQLA FDVAEREFGI PPVTTGKEMA SAQEPDKLSM VMYLSKFYEL FRGTPLRPVD SWRKNYGENA DLSLAKSSIS NNYLNLTFPR KRTPRVDGQT GENDMNKRRR KGFTNLDEPS NFSSRSLGSN QECGSSKEGG NQNKVKSMAN QLLAKFEEST RNPSLMKQER RVSGIGKPVL CSSSGPPVHS CCPKPEEATP SPSPPLKRQF PSVVVTGHVL RELKQVSAGS ECLSRPWRAR AKSDLQLGGT ENFATLPSTR PRAQALSGVL WRLQQVEEKI LQKRAQNLAN REFHTKNIKE KAAHLASMFG HGDFPQNKLL SKGLSHTHPP SPPSRLPSPD PAASSSPSTV DSASPARKLT VGKVSSGIGA AAEVLVNLYM NDHRPKAQAT SPDLESMRKS FPLNLGGSDT CYFCKKRVYV MERLSAEGHF FHRECFRCSI CATTLRLAAY TFDCDEGKFY CKPHFIHCKT NSKQRKRRAE LKQQREEEAT WQEQEAPRRD TPTESSCAVA AIGTLEGSPP VHFSLPVLHP LLG* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3312 / 3312 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1104 / 1104 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3389 / 3389 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 78 / 78 | ||||||||||||||||
| Last intron/exon boundary | 3348 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 3220 | ||||||||||||||||
| Length of CDS | 3312 | ||||||||||||||||
| Coding sequence (CDS) position | 31 | ||||||||||||||||
| cDNA position | 108 | ||||||||||||||||
| gDNA position | 68179 | ||||||||||||||||
| Chromosomal position | 12162186 | ||||||||||||||||
| Speed | 0.27 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 | Chr11:12162186C>A (GRCh38) | ||||||||||||||||
| Gene symbol | MICAL2 | ||||||||||||||||
| Gene constraints | LOEUF: 0.71, LOF (oe): 0.59, misssense (oe): 0.90, synonymous (oe): 0.98 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000256194.8 | ||||||||||||||||
| Genbank transcript ID | NM_014632 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | MICA2_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.31C>A g.68179C>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 | 11 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | ACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Altered gDNA sequence snippet | ACGAGGATGAGAAGCAGGCCAAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Original cDNA sequence snippet | ACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Altered cDNA sequence snippet | ACGAGGATGAGAAGCAGGCCAAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Wildtype AA sequence | MGENEDEKQA QAGQVFENFV QASTCKGTLQ AFNILTRHLD LDPLDHRNFY SKLKSKVTTW KAKALWYKLD KRGSHKEYKR GKSCTNTKCL IVGGGPCGLR TAIELAYLGA KVVVVEKRDS FSRNNVLHLW PFTIHDLRGL GAKKFYGKFC AGSIDHISIR QLQLILFKVA LMLGVEIHVN VEFVKVLEPP EDQENQKIGW RAEFLPTDHS LSEFEFDVII GADGRRNTLE GFRRKEFRGK LAIAITANFI NRNSTAEAKV EEISGVAFIF NQKFFQDLKE ETGIDLENIV YYKDCTHYFV MTAKKQSLLD KGVIINDYID TEMLLCAENV NQDNLLSYAR EAADFATNYQ LPSLDFAMNH YGQPDVAMFD FTCMYASENA ALVRERQAHQ LLVALVGDSL LEPFWPMGTG CARGFLAAFD TAWMVKSWNQ GTPPLELLAE RESLYRLLPQ TTPENINKNF EQYTLDPGTR YPNLNSHCVR PHQVKHLYIT KELEHYPLER LGSVRRSVNL SRKESDIRPS KLLTWCQQQT EGYQHVNVTD LTTSWRSGLA LCAIIHRFRP ELINFDSLNE DDAVENNQLA FDVAEREFGI PPVTTGKEMA SAQEPDKLSM VMYLSKFYEL FRGTPLRPVD SWRKNYGENA DLSLAKSSIS NNYLNLTFPR KRTPRVDGQT GENDMNKRRR KGFTNLDEPS NFSSRSLGSN QECGSSKEGG NQNKVKSMAN QLLAKFEEST RNPSLMKQER RVSGIGKPVL CSSSGPPVHS CCPKPEEATP SPSPPLKRQF PSVVVTGHVL RELKQVSAGS ECLSRPWRAR AKSDLQLGGT ENFATLPSTR PRAQALSGVL WRLQQVEEKI LQKRAQNLAN REFHTKNIKE KAAHLASMFG HGDFPQNKLL SKGLSHTHPP SPPSRLPSPD PAASSSPSTV DSASPARKEK KSPSGFHFHP SHLRTVHPQL TVGKVSSGIG AAAEVLVNLY MNDHRPKAQA TSPDLESMRK SFPLNLGGSD TCYFCKKRVY VMERLSAEGH FFHRECFRCS ICATTLRLAA YTFDCDEGKF YCKPHFIHCK TNSKQRKRRA ELKQQREEEA TWQEQEAPRR DTPTESSCAV AAIGTLEGSP PVHFSLPVLH PLLG* | ||||||||||||||||
| Mutated AA sequence | MGENEDEKQA KAGQVFENFV QASTCKGTLQ AFNILTRHLD LDPLDHRNFY SKLKSKVTTW KAKALWYKLD KRGSHKEYKR GKSCTNTKCL IVGGGPCGLR TAIELAYLGA KVVVVEKRDS FSRNNVLHLW PFTIHDLRGL GAKKFYGKFC AGSIDHISIR QLQLILFKVA LMLGVEIHVN VEFVKVLEPP EDQENQKIGW RAEFLPTDHS LSEFEFDVII GADGRRNTLE GFRRKEFRGK LAIAITANFI NRNSTAEAKV EEISGVAFIF NQKFFQDLKE ETGIDLENIV YYKDCTHYFV MTAKKQSLLD KGVIINDYID TEMLLCAENV NQDNLLSYAR EAADFATNYQ LPSLDFAMNH YGQPDVAMFD FTCMYASENA ALVRERQAHQ LLVALVGDSL LEPFWPMGTG CARGFLAAFD TAWMVKSWNQ GTPPLELLAE RESLYRLLPQ TTPENINKNF EQYTLDPGTR YPNLNSHCVR PHQVKHLYIT KELEHYPLER LGSVRRSVNL SRKESDIRPS KLLTWCQQQT EGYQHVNVTD LTTSWRSGLA LCAIIHRFRP ELINFDSLNE DDAVENNQLA FDVAEREFGI PPVTTGKEMA SAQEPDKLSM VMYLSKFYEL FRGTPLRPVD SWRKNYGENA DLSLAKSSIS NNYLNLTFPR KRTPRVDGQT GENDMNKRRR KGFTNLDEPS NFSSRSLGSN QECGSSKEGG NQNKVKSMAN QLLAKFEEST RNPSLMKQER RVSGIGKPVL CSSSGPPVHS CCPKPEEATP SPSPPLKRQF PSVVVTGHVL RELKQVSAGS ECLSRPWRAR AKSDLQLGGT ENFATLPSTR PRAQALSGVL WRLQQVEEKI LQKRAQNLAN REFHTKNIKE KAAHLASMFG HGDFPQNKLL SKGLSHTHPP SPPSRLPSPD PAASSSPSTV DSASPARKEK KSPSGFHFHP SHLRTVHPQL TVGKVSSGIG AAAEVLVNLY MNDHRPKAQA TSPDLESMRK SFPLNLGGSD TCYFCKKRVY VMERLSAEGH FFHRECFRCS ICATTLRLAA YTFDCDEGKF YCKPHFIHCK TNSKQRKRRA ELKQQREEEA TWQEQEAPRR DTPTESSCAV AAIGTLEGSP PVHFSLPVLH PLLG* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3375 / 3375 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1125 / 1125 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3663 / 3663 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 289 / 289 | ||||||||||||||||
| Last intron/exon boundary | 3680 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 3341 | ||||||||||||||||
| Length of CDS | 3375 | ||||||||||||||||
| Coding sequence (CDS) position | 31 | ||||||||||||||||
| cDNA position | 319 | ||||||||||||||||
| gDNA position | 68179 | ||||||||||||||||
| Chromosomal position | 12162186 | ||||||||||||||||
| Speed | 0.32 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 | Chr11:12162186C>A (GRCh38) | ||||||||||||||||
| Gene symbol | MICAL2 | ||||||||||||||||
| Gene constraints | LOEUF: 0.74, LOF (oe): 0.60, misssense (oe): 0.87, synonymous (oe): 0.98 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000528931.5 | ||||||||||||||||
| Genbank transcript ID | NM_001282667 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | MICA2_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.31C>A g.68179C>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 | 11 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | ACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Altered gDNA sequence snippet | ACGAGGATGAGAAGCAGGCCAAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Original cDNA sequence snippet | ACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Altered cDNA sequence snippet | ACGAGGATGAGAAGCAGGCCAAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Wildtype AA sequence | MGENEDEKQA QAGQVFENFV QASTCKGTLQ AFNILTRHLD LDPLDHRNFY SKLKSKVTTW KAKALWYKLD KRGSHKEYKR GKSCTNTKCL IVGGGPCGLR TAIELAYLGA KVVVVEKRDS FSRNNVLHLW PFTIHDLRGL GAKKFYGKFC AGSIDHISIR QLQLILFKVA LMLGVEIHVN VEFVKVLEPP EDQENQKIGW RAEFLPTDHS LSEFEFDVII GADGRRNTLE GFRRKEFRGK LAIAITANFI NRNSTAEAKV EEISGVAFIF NQKFFQDLKE ETGIDLENIV YYKDCTHYFV MTAKKQSLLD KGVIINDYID TEMLLCAENV NQDNLLSYAR EAADFATNYQ LPSLDFAMNH YGQPDVAMFD FTCMYASENA ALVRERQAHQ LLVALVGDSL LEPFWPMGTG CARGFLAAFD TAWMVKSWNQ GTPPLELLAE RESLYRLLPQ TTPENINKNF EQYTLDPGTR YPNLNSHCVR PHQVKHLYIT KELEHYPLER LGSVRRSVNL SRKESDIRPS KLLTWCQQQT EGYQHVNVTD LTTSWRSGLA LCAIIHRFRP ELINFDSLNE DDAVENNQLA FDVAEREFGI PPVTTGKEMA SAQEPDKLSM VMYLSKFYEL FRGTPLRPVD SWRKNYGENA DLSLAKSSIS NNYLNLTFPR KRTPRVDGQT GENDMNKRRR KGFTNLDEPS NFSSRSLGSN QECGSSKEGG NQNKVKSMAN QLLAKFEEST RNPSLMKQES MRKSFPLNLG GSDTCYFCKK RVYVMERLSA EGHFFHRECF RCSICATTLR LAAYTFDCDE GKFYCKPHFI HCKTNSKQRK RRAELKQQRE EEATWQEQEA PRRDTPTESS CAVAAIGTLE GSPPGISTSF FRKVLGWPLR LPRDLCNWMQ GLLQAAGLHI RDNAYNYCYM YELLSLGLPL LWAFSEVLAA MYRESEGSLE SICNWVLRCF PVKLR* | ||||||||||||||||
| Mutated AA sequence | MGENEDEKQA KAGQVFENFV QASTCKGTLQ AFNILTRHLD LDPLDHRNFY SKLKSKVTTW KAKALWYKLD KRGSHKEYKR GKSCTNTKCL IVGGGPCGLR TAIELAYLGA KVVVVEKRDS FSRNNVLHLW PFTIHDLRGL GAKKFYGKFC AGSIDHISIR QLQLILFKVA LMLGVEIHVN VEFVKVLEPP EDQENQKIGW RAEFLPTDHS LSEFEFDVII GADGRRNTLE GFRRKEFRGK LAIAITANFI NRNSTAEAKV EEISGVAFIF NQKFFQDLKE ETGIDLENIV YYKDCTHYFV MTAKKQSLLD KGVIINDYID TEMLLCAENV NQDNLLSYAR EAADFATNYQ LPSLDFAMNH YGQPDVAMFD FTCMYASENA ALVRERQAHQ LLVALVGDSL LEPFWPMGTG CARGFLAAFD TAWMVKSWNQ GTPPLELLAE RESLYRLLPQ TTPENINKNF EQYTLDPGTR YPNLNSHCVR PHQVKHLYIT KELEHYPLER LGSVRRSVNL SRKESDIRPS KLLTWCQQQT EGYQHVNVTD LTTSWRSGLA LCAIIHRFRP ELINFDSLNE DDAVENNQLA FDVAEREFGI PPVTTGKEMA SAQEPDKLSM VMYLSKFYEL FRGTPLRPVD SWRKNYGENA DLSLAKSSIS NNYLNLTFPR KRTPRVDGQT GENDMNKRRR KGFTNLDEPS NFSSRSLGSN QECGSSKEGG NQNKVKSMAN QLLAKFEEST RNPSLMKQES MRKSFPLNLG GSDTCYFCKK RVYVMERLSA EGHFFHRECF RCSICATTLR LAAYTFDCDE GKFYCKPHFI HCKTNSKQRK RRAELKQQRE EEATWQEQEA PRRDTPTESS CAVAAIGTLE GSPPGISTSF FRKVLGWPLR LPRDLCNWMQ GLLQAAGLHI RDNAYNYCYM YELLSLGLPL LWAFSEVLAA MYRESEGSLE SICNWVLRCF PVKLR* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2868 / 2868 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 956 / 956 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2868 / 2868 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||
| Last intron/exon boundary | 2490 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2439 | ||||||||||||||||
| Length of CDS | 2868 | ||||||||||||||||
| Coding sequence (CDS) position | 31 | ||||||||||||||||
| cDNA position | 31 | ||||||||||||||||
| gDNA position | 68179 | ||||||||||||||||
| Chromosomal position | 12162186 | ||||||||||||||||
| Speed | 0.29 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 | Chr11:12162186C>A (GRCh38) | ||||||||||||||||
| Gene symbol | MICAL2 | ||||||||||||||||
| Gene constraints | LOEUF: 0.85, LOF (oe): 0.74, misssense (oe): 0.94, synonymous (oe): 0.99 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000646065.1 | ||||||||||||||||
| Genbank transcript ID | NM_001393937 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | MICA2_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.31C>A g.68179C>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 | 11 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | ACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Altered gDNA sequence snippet | ACGAGGATGAGAAGCAGGCCAAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Original cDNA sequence snippet | ACGAGGATGAGAAGCAGGCCCAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Altered cDNA sequence snippet | ACGAGGATGAGAAGCAGGCCAAGGCGGGGCAGGTTTTTGAG | ||||||||||||||||
| Wildtype AA sequence | MGENEDEKQA QAGQVFENFV QASTCKGTLQ AFNILTRHLD LDPLDHRNFY SKLKSKVTTW KAKALWYKLD KRGSHKEYKR GKSCTNTKCL IVGGGPCGLR TAIELAYLGA KVVVVEKRDS FSRNNVLHLW PFTIHDLRGL GAKKFYGKFC AGSIDHISIR QLQLILFKVA LMLGVEIHVN VEFVKVLEPP EDQENQKIGW RAEFLPTDHS LSEFEFDVII GADGRRNTLE GFRRKEFRGK LAIAITANFI NRNSTAEAKV EEISGVAFIF NQKFFQDLKE ETGIDLENIV YYKDCTHYFV MTAKKQSLLD KGVIINDYID TEMLLCAENV NQDNLLSYAR EAADFATNYQ LPSLDFAMNH YGQPDVAMFD FTCMYASENA ALVRERQAHQ LLVALVGDSL LEPFWPMGTG CARGFLAAFD TAWMVKSWNQ GTPPLELLAE RESLYRLLPQ TTPENINKNF EQYTLDPGTR YPNLNSHCVR PHQVKHLYIT KELEHYPLER LGSVRRSVNL SRKESDIRPS KLLTWCQQQT EGYQHVNVTD LTTSWRSGLA LCAIIHRFRP ELINFDSLNE DDAVENNQLA FDVAEREFGI PPVTTGKEMA SAQEPDKLSM VMYLSKFYEL FRGTPLRPVD SWRKNYGENA DLSLAKSSIS NNYLNLTFPR KRTPRVDGQT GENDMNKRRR KGFTNLDEPS NFSSRSLGSN QECGSSKEGG NQNKVKSMAN QLLAKFEEST RNPSLMKQER RVSGIGKPVL CSSSGPPVHS CCPKPEEATP SPSPPLKRQF PSVVVTGHVL RELKQVSAGS ECLSRPWRAR AKSDLQLGGT ENFATLPSTR PRAQALSGVL WRLQQVEEKI LQKRAQNLAN REFHTKNIKE KAAHLASMFG HGDFPQNKLL SKGLSHTHPP SPPSRLPSPD PAASSSPSTV DSASPARKEK KSPSGFHFHP SHLRTVHPQL TVGKVSSGIG AAAEVLVNLY MNDHRPKAQA TSPDLESMRK SFPLNLGGSD TCYFCKKRVY VMERLSAEGH FFHRECFRCS ICATTLRLAA YTFDCDEGKF YCKPHFIHCK TNSKQRKRRA ELKQQREEEA TWQEQEAPRR DTPTESSCAV AAIGTLEGSP PDEPTSPKRP KSISEPQHSD AEGDAASPLP SEWTSVRISP GEEAAGQDVL AVRVLVTSED SSSDTESDYG GSEGSHTEPC EEKPWRPGSP HLPHTSLGEA LSRAVSPQCP EEPRAVHAAL QRANSFQSPT PSKYQNWRRE FWWSLTPVNK RTMSPPKDPS PSLPLPSSSS HSSSPPSSSS TSVSGNAPDG SSPPQMTASE PLSQVSRGHP SPPTPNFRRR AVAQGAPREI PLYLPHHPKP EWAEYCLVSP GEDGLSDPAE MTSDECQPAE APLGDIGSNH RDPHPIWGKD RSWTGQELSP LAGEDREKGS TGARKEEEGG PVLVKEKLGL KKLVLTQEQK TMLLDWNDSI PESVHLKAGE RISQKSAENG RGGRVLKPVR PLLLPRAAGE PLPTQRGAQE KMGTPAEQAQ GERNVPPPKS PLRLIANAIR RSLEPLLSNS EGGKKAWAKQ ESKTLPAQAC TRSFSLRKTN SNKDGDQHSP GRNQSSAFSP PDPALRTHSL PNRPSKVFPA LRSPPCSKIE DVPTLLEKVS LQENFPDASK PPKKRISLFS SLRLKDKSFE SFLQESRQRK DIRDLFGSPK RKVLPEDSAQ ALEKLLQPFK STSLRQAAPP PPPPPPPPPP PPTAGGADSK NFPLRAQVTE ASSSASSTSS SSADEEFDPQ LSLQLKEKKT LRRRKKLEKA MKQLVKQEEL KRLYKAQAIQ RQLEEVEERQ RASEIQGVRL EKALRGEADS GTQDEAQLLQ EWFKLVLEKN KLMRYESELL IMAQELELED HQSRLEQKLR EKMLKEESQK DEKDLNEEQE VFTELMQVIE QRDKLVDSLE EQRIREKAED QHFESFVFSR GCQLSRT* | ||||||||||||||||
| Mutated AA sequence | MGENEDEKQA KAGQVFENFV QASTCKGTLQ AFNILTRHLD LDPLDHRNFY SKLKSKVTTW KAKALWYKLD KRGSHKEYKR GKSCTNTKCL IVGGGPCGLR TAIELAYLGA KVVVVEKRDS FSRNNVLHLW PFTIHDLRGL GAKKFYGKFC AGSIDHISIR QLQLILFKVA LMLGVEIHVN VEFVKVLEPP EDQENQKIGW RAEFLPTDHS LSEFEFDVII GADGRRNTLE GFRRKEFRGK LAIAITANFI NRNSTAEAKV EEISGVAFIF NQKFFQDLKE ETGIDLENIV YYKDCTHYFV MTAKKQSLLD KGVIINDYID TEMLLCAENV NQDNLLSYAR EAADFATNYQ LPSLDFAMNH YGQPDVAMFD FTCMYASENA ALVRERQAHQ LLVALVGDSL LEPFWPMGTG CARGFLAAFD TAWMVKSWNQ GTPPLELLAE RESLYRLLPQ TTPENINKNF EQYTLDPGTR YPNLNSHCVR PHQVKHLYIT KELEHYPLER LGSVRRSVNL SRKESDIRPS KLLTWCQQQT EGYQHVNVTD LTTSWRSGLA LCAIIHRFRP ELINFDSLNE DDAVENNQLA FDVAEREFGI PPVTTGKEMA SAQEPDKLSM VMYLSKFYEL FRGTPLRPVD SWRKNYGENA DLSLAKSSIS NNYLNLTFPR KRTPRVDGQT GENDMNKRRR KGFTNLDEPS NFSSRSLGSN QECGSSKEGG NQNKVKSMAN QLLAKFEEST RNPSLMKQER RVSGIGKPVL CSSSGPPVHS CCPKPEEATP SPSPPLKRQF PSVVVTGHVL RELKQVSAGS ECLSRPWRAR AKSDLQLGGT ENFATLPSTR PRAQALSGVL WRLQQVEEKI LQKRAQNLAN REFHTKNIKE KAAHLASMFG HGDFPQNKLL SKGLSHTHPP SPPSRLPSPD PAASSSPSTV DSASPARKEK KSPSGFHFHP SHLRTVHPQL TVGKVSSGIG AAAEVLVNLY MNDHRPKAQA TSPDLESMRK SFPLNLGGSD TCYFCKKRVY VMERLSAEGH FFHRECFRCS ICATTLRLAA YTFDCDEGKF YCKPHFIHCK TNSKQRKRRA ELKQQREEEA TWQEQEAPRR DTPTESSCAV AAIGTLEGSP PDEPTSPKRP KSISEPQHSD AEGDAASPLP SEWTSVRISP GEEAAGQDVL AVRVLVTSED SSSDTESDYG GSEGSHTEPC EEKPWRPGSP HLPHTSLGEA LSRAVSPQCP EEPRAVHAAL QRANSFQSPT PSKYQNWRRE FWWSLTPVNK RTMSPPKDPS PSLPLPSSSS HSSSPPSSSS TSVSGNAPDG SSPPQMTASE PLSQVSRGHP SPPTPNFRRR AVAQGAPREI PLYLPHHPKP EWAEYCLVSP GEDGLSDPAE MTSDECQPAE APLGDIGSNH RDPHPIWGKD RSWTGQELSP LAGEDREKGS TGARKEEEGG PVLVKEKLGL KKLVLTQEQK TMLLDWNDSI PESVHLKAGE RISQKSAENG RGGRVLKPVR PLLLPRAAGE PLPTQRGAQE KMGTPAEQAQ GERNVPPPKS PLRLIANAIR RSLEPLLSNS EGGKKAWAKQ ESKTLPAQAC TRSFSLRKTN SNKDGDQHSP GRNQSSAFSP PDPALRTHSL PNRPSKVFPA LRSPPCSKIE DVPTLLEKVS LQENFPDASK PPKKRISLFS SLRLKDKSFE SFLQESRQRK DIRDLFGSPK RKVLPEDSAQ ALEKLLQPFK STSLRQAAPP PPPPPPPPPP PPTAGGADSK NFPLRAQVTE ASSSASSTSS SSADEEFDPQ LSLQLKEKKT LRRRKKLEKA MKQLVKQEEL KRLYKAQAIQ RQLEEVEERQ RASEIQGVRL EKALRGEADS GTQDEAQLLQ EWFKLVLEKN KLMRYESELL IMAQELELED HQSRLEQKLR EKMLKEESQK DEKDLNEEQE VFTELMQVIE QRDKLVDSLE EQRIREKAED QHFESFVFSR GCQLSRT* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 5874 / 5874 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1958 / 1958 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 5874 / 5874 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | ||||||||||||||||
| Last intron/exon boundary | 5689 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 5638 | ||||||||||||||||
| Length of CDS | 5874 | ||||||||||||||||
| Coding sequence (CDS) position | 31 | ||||||||||||||||
| cDNA position | 31 | ||||||||||||||||
| gDNA position | 68179 | ||||||||||||||||
| Chromosomal position | 12162186 | ||||||||||||||||
| Speed | 0.26 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