| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CACNA1A | Deleterious | 199|1 | without_ | No | Single base exchange | N/A |
| ||||||
ENST00000360228(MANE Select) | CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| |||||
ENST00000638009(MANE Select) | CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| |||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
| ||||||
| CACNA1A | Deleterious | 200|0 | without_ | No | Single base exchange | N/A |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.28, LOF (oe): 0.14, misssense (oe): 0.47, synonymous (oe): 0.94 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000637819.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5947-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDAL RRTTIKKSKT DLLNPEEAED QLADIASVGS PFARASIKSA KLENSTFFHK KERRMRFYIR RMVKTQAFYW TVLSLVALNT LCVAIVHYNQ PEWLSDFLYY AEFIFLGLFM SEMFIKMYGL GTRPYFHSSF NCFDCGVIIG SIFEVIWAVI KPGTSFGISV LRALRLLRIF KVTKYWASLR NLVVSLLNSM KSIISLLFLL FLFIVVFALL GMQLFGGQFN FDEGTPPTNF DTFPAAIMTV FQILTGEDWN EVMYDGIKSQ GGVQGGMVFS IYFIVLTLFG NYTLLNVFLA IAVDNLANAQ ELTKDEQEEE EAANQKLALQ KAKEVAEVSP LSAANMSIAV KEQQKNQKPA KSVWEQRTSE MRKQNLLASR EALYNEMDPD ERWKAAYTRH LRPDMKTHLD RPLVVDPQEN RNNNTNKSRA AEPTVDQRLG QQRAEDFLRK QARYHDRARD PSGSAGLDAR RPWAGSQEAE LSREGPYGRE SDHHAREGSL EQPGFWEGEA ERGKAGDPHR RHVHRQGGSR ESRSGSPRTG ADGEHRRHRA HRRPGEEGPE DKAERRARHR EGSRPARGGE GEGEGPDGGE RRRRHRHGAP ATYEGDARRE DKERRHRRRK ENQGSGVPVS GPNLSTTRPI QQDLGRQDPP LAEDIDNMKN NKLATAESAA PHGSLGHAGL PQSPAKMGNS TDPGPMLAIP AMATNPQNAA SRRTPNNPGN PSNPGPPKTP ENSLIVTNPS GTQTNSAKTA RKPDHTTVDI PPACPPPLNH TVVQVNKNAN PDPLPKKEEE KKEEEEDDRG EDGPKPMPPY SSMFILSTTN PLRRLCHYIL NLRYFEMCIL MVIAMSSIAL AAEDPVQPNA PRNNVLRYFD YVFTGVFTFE MVIKMIDLGL VLHQGAYFRD LWNILDFIVV SGALVAFAFT GNSKGKDINT IKSLRVLRVL RPLKTIKRLP KLKAVFDCVV NSLKNVFNIL IVYMLFMFIF AVVAVQLFKG KFFHCTDESK EFEKDCRGKY LLYEKNEVKA RDREWKKYEF HYDNVLWALL TLFTVSTGEG WPQVLKHSVD ATFENQGPSP GYRMEMSIFY VVYFVVFPFF FVNIFVALII ITFQEQGDKM MEEYSLEKNE RACIDFAISA KPLTRHMPQN KQSFQYRMWQ FVVSPPFEYT IMAMIALNTI VLMMKFYGAS VAYENALRVF NIVFTSLFSL ECVLKVMAFG ILNYFRDAWN IFDFVTVLGS ITDILVTEFG NPNNFINLSF LRLFRAARLI KLLRQGYTIR ILLWTFVQSF KALPYVCLLI AMLFFIYAII GMQVFGNIGI DVEDEDSDED EFQITEHNNF RTFFQALMLL FRSATGEAWH NIMLSCLSGK PCDKNSGILT RECGNEFAYF YFVSFIFLCS FLMLNLFVAV IMDNFEYLTR DSSILGPHHL DEYVRVWAEY DPAACGRIHY KDMYSLLRVI SPPLGLGKKC PHRVACKRLL RMDLPVADDN TVHFNSTLMA LIRTALDIKI AKGGADKQQM DAELRKEMMA IWPNLSQKTL DLLVTPHKST DLTVGKIYAA MMIMEYYRQS KAKKLQAMRE EQDRTPLMFQ RMEPPSPTQE GGPGQNALPS TQLDPGGALM AHESGLKESP SWVTQRAQEM FQKTGTWSPE QGPPTDMPNS QPNSQSVEMR EMGRDGYSDS EHYLPMEGQG RAASMPRLPA ENQRRRGRPR GNNLSTISDT SPMKRSASVL GPKARRLDDY SLERVPPEEN QRHHQRRRDR SHRASERSLG RYTDVDTGLG TDLSMTTQSG DLPSKERDQE RGRPKDRKHR QHHHHHHHHH HPPPPDKDRY AQERPDHGRA RARDQRWSRS PSEGREHMAH RQGSSSVSGS PAPSTSGTST PRRGRRQLPQ TPSTPRPHVS YSPVIRKAGG SGPPQQQQQQ QQQQQQQAVA RPGRAATSGP RRYPGPTAEP LAGDRPPTGG HSSGRSPRME RRVPGPARSE SPRACRHGGA RWPASGPHVS EGPPGPRHHG YYRGSDYDEA DGPGSGGGEE AMAGAYDAPP PVRHASSGAT GRSPRTPRAS GPACASPSRH GRRLPNGYYP AHGLARPRGP GSRKGLHEPY SESDDDWC* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 256 / 256 | |||||||||||||
| Last intron/exon boundary | 7041 | |||||||||||||
| Theoretical NMD boundary in CDS | 6735 | |||||||||||||
| Length of CDS | 7527 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.04 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.33, LOF (oe): 0.26, misssense (oe): 0.80, synonymous (oe): 1.12 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000360228.11 | |||||||||||||
| Genbank transcript ID | NM_001127222 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | CAC1A_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5941-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDAL RRTTIKKSKT DLLNPEEAED QLADIASVGS PFARASIKSA KLENSTFFHK KERRMRFYIR RMVKTQAFYW TVLSLVALNT LCVAIVHYNQ PEWLSDFLYY AEFIFLGLFM SEMFIKMYGL GTRPYFHSSF NCFDCGVIIG SIFEVIWAVI KPGTSFGISV LRALRLLRIF KVTKYWASLR NLVVSLLNSM KSIISLLFLL FLFIVVFALL GMQLFGGQFN FDEGTPPTNF DTFPAAIMTV FQILTGEDWN EVMYDGIKSQ GGVQGGMVFS IYFIVLTLFG NYTLLNVFLA IAVDNLANAQ ELTKDEQEEE EAANQKLALQ KAKEVAEVSP LSAANMSIAV KEQQKNQKPA KSVWEQRTSE MRKQNLLASR EALYNEMDPD ERWKAAYTRH LRPDMKTHLD RPLVVDPQEN RNNNTNKSRA AEPTVDQRLG QQRAEDFLRK QARYHDRARD PSGSAGLDAR RPWAGSQEAE LSREGPYGRE SDHHAREGSL EQPGFWEGEA ERGKAGDPHR RHVHRQGGSR ESRSGSPRTG ADGEHRRHRA HRRPGEEGPE DKAERRARHR EGSRPARGGE GEGEGPDGGE RRRRHRHGAP ATYEGDARRE DKERRHRRRK ENQGSGVPVS GPNLSTTRPI QQDLGRQDPP LAEDIDNMKN NKLATAESAA PHGSLGHAGL PQSPAKMGNS TDPGPMLAIP AMATNPQNAA SRRTPNNPGN PSNPGPPKTP ENSLIVTNPS GTQTNSAKTA RKPDHTTVDI PPACPPPLNH TVVQVNKNAN PDPLPKKEEE KKEEEEDDRG EDGPKPMPPY SSMFILSTTN PLRRLCHYIL NLRYFEMCIL MVIAMSSIAL AAEDPVQPNA PRNNVLRYFD YVFTGVFTFE MVIKMIDLGL VLHQGAYFRD LWNILDFIVV SGALVAFAFT GNSKGKDINT IKSLRVLRVL RPLKTIKRLP KLKAVFDCVV NSLKNVFNIL IVYMLFMFIF AVVAVQLFKG KFFHCTDESK EFEKDCRGKY LLYEKNEVKA RDREWKKYEF HYDNVLWALL TLFTVSTGEG WPQVLKHSVD ATFENQGPSP GYRMEMSIFY VVYFVVFPFF FVNIFVALII ITFQEQGDKM MEEYSLEKNE RACIDFAISA KPLTRHMPQN KQSFQYRMWQ FVVSPPFEYT IMAMIALNTI VLMMKFYGAS VAYENALRVF NIVFTSLFSL ECVLKVMAFG ILNYFRDAWN IFDFVTVLGS ITDILVTEFG NNFINLSFLR LFRAARLIKL LRQGYTIRIL LWTFVQSFKA LPYVCLLIAM LFFIYAIIGM QVFGNIGIDV EDEDSDEDEF QITEHNNFRT FFQALMLLFR SATGEAWHNI MLSCLSGKPC DKNSGILTRE CGNEFAYFYF VSFIFLCSFL MLNLFVAVIM DNFEYLTRDS SILGPHHLDE YVRVWAEYDP AAWGRMPYLD MYQMLRHMSP PLGLGKKCPA RVAYKRLLRM DLPVADDNTV HFNSTLMALI RTALDIKIAK GGADKQQMDA ELRKEMMAIW PNLSQKTLDL LVTPHKSTDL TVGKIYAAMM IMEYYRQSKA KKLQAMREEQ DRTPLMFQRM EPPSPTQEGG PGQNALPSTQ LDPGGALMAH ESGLKESPSW VTQRAQEMFQ KTGTWSPEQG PPTDMPNSQP NSQSVEMREM GRDGYSDSEH YLPMEGQGRA ASMPRLPAEN QRRRGRPRGN NLSTISDTSP MKRSASVLGP KARRLDDYSL ERVPPEENQR HHQRRRDRSH RASERSLGRY TDVDTGLGTD LSMTTQSGDL PSKERDQERG RPKDRKHRQH HHHHHHHHHP PPPDKDRYAQ ERPDHGRARA RDQRWSRSPS EGREHMAHRQ GSSSVSGSPA PSTSGTSTPR RGRRQLPQTP STPRPHVSYS PVIRKAGGSG PPQQQQQQQQ QQQQQAVARP GRAATSGPRR YPGPTAEPLA GDRPPTGGHS SGRSPRMERR VPGPARSESP RACRHGGARW PASGPHVSEG PPGPRHHGYY RGSDYDEADG PGSGGGEEAM AGAYDAPPPV RHASSGATGR SPRTPRASGP ACASPSRHGR RLPNGYYPAH GLARPRGPGS RKGLHEPYSE SDDDWC* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 256 / 256 | |||||||||||||
| Last intron/exon boundary | 7035 | |||||||||||||
| Theoretical NMD boundary in CDS | 6729 | |||||||||||||
| Length of CDS | 7521 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.02 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.32, LOF (oe): 0.25, misssense (oe): 0.71, synonymous (oe): 1.06 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000638009.2 | |||||||||||||
| Genbank transcript ID | NM_001127221 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | CAC1A_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5944-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAACGRIHYK DMYSLLRVIS PPLGLGKKCP HRVACKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE NQRRRGRPRG NNLSTISDTS PMKRSASVLG PKARRLDDYS LERVPPEENQ RHHQRRRDRS HRASERSLGR YTDVDTGLGT DLSMTTQSGD LPSKERDQER GRPKDRKHRQ HHHHHHHHHH PPPPDKDRYA QERPDHGRAR ARDQRWSRSP SEGREHMAHR Q* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 256 / 256 | |||||||||||||
| Last intron/exon boundary | 7038 | |||||||||||||
| Theoretical NMD boundary in CDS | 6732 | |||||||||||||
| Length of CDS | 6786 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.03 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.33, LOF (oe): 0.26, misssense (oe): 0.80, synonymous (oe): 1.13 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000637769.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5944-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAACGRIHYK DMYSLLRVIS PPLGLGKKCP HRVACKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE NQRRRGRPRG NNLSTISDTS PMKRSASVLG PKARRLDDYS LERVPPEENQ RHHQRRRDRS HRASERSLGR YTDVDTGLGT DLSMTTQSGD LPSKERDQER GRPKDRKHRQ HHHHHHHHHH PPPPDKDRYA QERPDHGRAR ARDQRWSRSP SEGREHMAHR QGSSSVSGSP APSTSGTSTP RRGRRQLPQT PSTPRPHVSY SPVIRKAGGS GPPQQQQQQQ QQQQQQAVAR PGRAATSGPR RYPGPTAEPL AGDRPPTGGH SSGRSPRMER RVPGPARSES PRACRHGGAR WPASGPHVSE GPPGPRHHGY YRGSDYDEAD GPGSGGGEEA MAGAYDAPPP VRHASSGATG RSPRTPRASG PACASPSRHG RRLPNGYYPA HGLARPRGPG SRKGLHEPYS ESDDDWC* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 257 / 257 | |||||||||||||
| Last intron/exon boundary | 7039 | |||||||||||||
| Theoretical NMD boundary in CDS | 6732 | |||||||||||||
| Length of CDS | 7524 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.02 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.32, LOF (oe): 0.25, misssense (oe): 0.71, synonymous (oe): 1.06 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000635895.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5944-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAAWGRMPYL DMYQMLRHMS PPLGLGKKCP ARVAYKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE NQRRRGRPRG NNLSTISDTS PMKRSASVLG PKARRLDDYS LERVPPEENQ RHHQRRRDRS HRASERSLGR YTDVDTGLGT DLSMTTQSGD LPSKERDQER GRPKDRKHRQ HHHHHHHHHH PPPPDKDRYA QERPDHGRAR ARDQRWSRSP SEGREHMAHR Q* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 272 / 272 | |||||||||||||
| Last intron/exon boundary | 7054 | |||||||||||||
| Theoretical NMD boundary in CDS | 6732 | |||||||||||||
| Length of CDS | 6786 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.02 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.43, LOF (oe): 0.30, misssense (oe): 0.98, synonymous (oe): 1.21 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000587525.6 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5941-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDAL RRTTIKKSKT DLLNPEEAED QLADIASVGS PFARASIKSA KLENSTFFHK KERRMRFYIR RMVKTQAFYW TVLSLVALNT LCVAIVHYNQ PEWLSDFLYY AEFIFLGLFM SEMFIKMYGL GTRPYFHSSF NCFDCGVIIG SIFEVIWAVI KPGTSFGISV LRALRLLRIF KVTKYWASLR NLVVSLLNSM KSIISLLFLL FLFIVVFALL GMQLFGGQFN FDEGTPPTNF DTFPAAIMTV FQILTGEDWN EVMYDGIKSQ GGVQGGMVFS IYFIVLTLFG NYTLLNVFLA IAVDNLANAQ ELTKDEQEEE EAANQKLALQ KAKEVAEVSP LSAANMSIAV KEQQKNQKPA KSVWEQRTSE MRKQNLLASR EALYNEMDPD ERWKAAYTRH LRPDMKTHLD RPLVVDPQEN RNNNTNKSRA AEPTVDQRLG QQRAEDFLRK QARYHDRARD PSGSAGLDAR RPWAGSQEAE LSREGPYGRE SDHHAREGSL EQPGFWEGEA ERGKAGDPHR RHVHRQGGSR ESRSGSPRTG ADGEHRRHRA HRRPGEEGPE DKAERRARHR EGSRPARGGE GEGEGPDGGE RRRRHRHGAP ATYEGDARRE DKERRHRRRK ENQGSGVPVS GPNLSTTRPI QQDLGRQDPP LAEDIDNMKN NKLATAESAA PHGSLGHAGL PQSPAKMGNS TDPGPMLAIP AMATNPQNAA SRRTPNNPGN PSNPGPPKTP ENSLIVTNPS GTQTNSAKTA RKPDHTTVDI PPACPPPLNH TVVQVNKNAN PDPLPKKEEE KKEEEEDDRG EDGPKPMPPY SSMFILSTTN PLRRLCHYIL NLRYFEMCIL MVIAMSSIAL AAEDPVQPNA PRNNVLRYFD YVFTGVFTFE MVIKMIDLGL VLHQGAYFRD LWNILDFIVV SGALVAFAFT GNSKGKDINT IKSLRVLRVL RPLKTIKRLP KLKAVFDCVV NSLKNVFNIL IVYMLFMFIF AVVAVQLFKG KFFHCTDESK EFEKDCRGKY LLYEKNEVKA RDREWKKYEF HYDNVLWALL TLFTVSTGEG WPQVLKHSVD ATFENQGPSP GYRMEMSIFY VVYFVVFPFF FVNIFVALII ITFQEQGDKM MEEYSLEKNE RACIDFAISA KPLTRHMPQN KQSFQYRMWQ FVVSPPFEYT IMAMIALNTI VLMMKFYGAS VAYENALRVF NIVFTSLFSL ECVLKVMAFG ILNYFRDAWN IFDFVTVLGS ITDILVTEFG NNFINLSFLR LFRAARLIKL LRQGYTIRIL LWTFVQSFKA LPYVCLLIAM LFFIYAIIGM QVFGNIGIDV EDEDSDEDEF QITEHNNFRT FFQALMLLFR SATGEAWHNI MLSCLSGKPC DKNSGILTRE CGNEFAYFYF VSFIFLCSFL MLNLFVAVIM DNFEYLTRDS SILGPHHLDE YVRVWAEYDP AACGRIHYKD MYSLLRVISP PLGLGKKCPH RVACKRLLRM DLPVADDNTV HFNSTLMALI RTALDIKIAK GGADKQQMDA ELRKEMMAIW PNLSQKTLDL LVTPHKSTDL TVGKIYAAMM IMEYYRQSKA KKLQAMREEQ DRTPLMFQRM EPPSPTQEGG PGQNALPSTQ LDPGGALMAH ESGLKESPSW VTQRAQEMFQ KTGTWSPEQG PPTDMPNSQP NSQSVEMREM GRDGYSDSEH YLPMEGQGRA ASMPRLPAEN QTISDTSPMK RSASVLGPKA RRLDDYSLER VPPEENQRHH QRRRDRSHRA SERSLGRYTD VDTGLGTDLS MTTQSGDLPS KERDQERGRP KDRKHRQHHH HHHHHHHPPP PDKDRYAQER PDHGRARARD QRWSRSPSEG REHMAHRQGS SSVSGSPAPS TSGTSTPRRG RRQLPQTPST PRPHVSYSPV IRKAGGSGPP QQQQQQQQQQ QQQAVARPGR AATSGPRRYP GPTAEPLAGD RPPTGGHSSG RSPRMERRVP GPARSESPRA CRHGGARWPA SGPHVSEGPP GPRHHGYYRG SDYDEADGPG SGGGEEAMAG AYDAPPPVRH ASSGATGRSP RTPRASGPAC ASPSRHGRRL PNGYYPAHGL ARPRGPGSRK GLHEPYSESD DDWC* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 256 / 256 | |||||||||||||
| Last intron/exon boundary | 6999 | |||||||||||||
| Theoretical NMD boundary in CDS | 6693 | |||||||||||||
| Length of CDS | 7485 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.02 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.33, LOF (oe): 0.26, misssense (oe): 0.81, synonymous (oe): 1.13 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000637736.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5803-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVDDTE PYFIGIFCFE AGIKIIALGF AFHKGSYLRN GWNVMDFVVV LTGILATVGT EFDLRTLRAV RVLRPLKLVS GIPSLQVVLK SIMKAMIPLL QIGLLLFFAI LIFAIIGLEF YMGKFHTTCF EEGTDDIQGE SPAPCGTEEP ARTCPNGTKC QPYWEGPNNG ITQFDNILFA VLTVFQCITM EGWTDLLYNS NDASGNTWNW LYFIPLIIIG SFFMLNLVLG VLSGEFAKER ERVENRRAFL KLRRQQQIER ELNGYMEWIS KAEEVILAED ETDGEQRHPF DGALRRTTIK KSKTDLLNPE EAEDQLADIA SVGSPFARAS IKSAKLENST FFHKKERRMR FYIRRMVKTQ AFYWTVLSLV ALNTLCVAIV HYNQPEWLSD FLYYAEFIFL GLFMSEMFIK MYGLGTRPYF HSSFNCFDCG VIIGSIFEVI WAVIKPGTSF GISVLRALRL LRIFKVTKYW ASLRNLVVSL LNSMKSIISL LFLLFLFIVV FALLGMQLFG GQFNFDEGTP PTNFDTFPAA IMTVFQILTG EDWNEVMYDG IKSQGGVQGG MVFSIYFIVL TLFGNYTLLN VFLAIAVDNL ANAQELTKDE QEEEEAANQK LALQKAKEVA EVSPLSAANM SIAVKEQQKN QKPAKSVWEQ RTSEMRKQNL LASREALYNE MDPDERWKAA YTRHLRPDMK THLDRPLVVD PQENRNNNTN KSRAAEPTVD QRLGQQRAED FLRKQARYHD RARDPSGSAG LDARRPWAGS QEAELSREGP YGRESDHHAR EGSLEQPGFW EGEAERGKAG DPHRRHVHRQ GGSRESRSGS PRTGADGEHR RHRAHRRPGE EGPEDKAERR ARHREGSRPA RGGEGEGEGP DGGERRRRHR HGAPATYEGD ARREDKERRH RRRKENQGSG VPVSGPNLST TRPIQQDLGR QDPPLAEDID NMKNNKLATA ESAAPHGSLG HAGLPQSPAK MGNSTDPGPM LAIPAMATNP QNAASRRTPN NPGNPSNPGP PKTPENSLIV TNPSGTQTNS AKTARKPDHT TVDIPPACPP PLNHTVVQVN KNANPDPLPK KEEEKKEEEE DDRGEDGPKP MPPYSSMFIL STTNPLRRLC HYILNLRYFE MCILMVIAMS SIALAAEDPV QPNAPRNNVL RYFDYVFTGV FTFEMVIKMI DLGLVLHQGA YFRDLWNILD FIVVSGALVA FAFTGNSKGK DINTIKSLRV LRVLRPLKTI KRLPKLKAVF DCVVNSLKNV FNILIVYMLF MFIFAVVAVQ LFKGKFFHCT DESKEFEKDC RGKYLLYEKN EVKARDREWK KYEFHYDNVL WALLTLFTVS TGEGWPQVLK HSVDATFENQ GPSPGYRMEM SIFYVVYFVV FPFFFVNIFV ALIIITFQEQ GDKMMEEYSL EKNERACIDF AISAKPLTRH MPQNKQSFQY RMWQFVVSPP FEYTIMAMIA LNTIVLMMKF YGASVAYENA LRVFNIVFTS LFSLECVLKV MAFGILNYFR DAWNIFDFVT VLGSITDILV TEFGNNFINL SFLRLFRAAR LIKLLRQGYT IRILLWTFVQ SFKALPYVCL LIAMLFFIYA IIGMQVFGNI GIDVEDEDSD EDEFQITEHN NFRTFFQALM LLFRSATGEA WHNIMLSCLS GKPCDKNSGI LTRECGNEFA YFYFVSFIFL CSFLMLNLFV AVIMDNFEYL TRDSSILGPH HLDEYVRVWA EYDPAACGRI HYKDMYSLLR VISPPLGLGK KCPHRVACKR LLRMDLPVAD DNTVHFNSTL MALIRTALDI KIAKGGADKQ QMDAELRKEM MAIWPNLSQK TLDLLVTPHK STDLTVGKIY AAMMIMEYYR QSKAKKLQAM REEQDRTPLM FQRMEPPSPT QEGGPGQNAL PSTQLDPGGA LMAHESGLKE SPSWVTQRAQ EMFQKTGTWS PEQGPPTDMP NSQPNSQSVE MREMGRDGYS DSEHYLPMEG QGRAASMPRL PAENQRRRGR PRGNNLSTIS DTSPMKRSAS VLGPKARRLD DYSLERVPPE ENQRHHQRRR DRSHRASERS LGRYTDVDTG LGTDLSMTTQ SGDLPSKERD QERGRPKDRK HRQHHHHHHH HHHPPPPDKD RYAQERPDHG RARARDQRWS RSPSEGREHM AHRQGSSSVS GSPAPSTSGT STPRRGRRQL PQTPSTPRPH VSYSPVIRKA GGSGPPQQQQ QQQQQQQQQA VARPGRAATS GPRRYPGPTA EPLAGDRPPT GGHSSGRSPR MERRVPGPAR SESPRACRHG GARWPASGPH VSEGPPGPRH HGYYRGSDYD EADGPGSGGG EEAMAGAYDA PPPVRHASSG ATGRSPRTPR ASGPACASPS RHGRRLPNGY YPAHGLARPR GPGSRKGLHE PYSESDDDWC * | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 236 / 236 | |||||||||||||
| Last intron/exon boundary | 6877 | |||||||||||||
| Theoretical NMD boundary in CDS | 6591 | |||||||||||||
| Length of CDS | 7383 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.01 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.32, LOF (oe): 0.25, misssense (oe): 0.71, synonymous (oe): 1.06 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000637432.1 | |||||||||||||
| Genbank transcript ID | NM_000068 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | CAC1A_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5959-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA QELTKVEADE QEEEEAANQK LALQKAKEVA EVSPLSAANM SIAVKEQQKN QKPAKSVWEQ RTSEMRKQNL LASREALYNE MDPDERWKAA YTRHLRPDMK THLDRPLVVD PQENRNNNTN KSRAAEPTVD QRLGQQRAED FLRKQARYHD RARDPSGSAG LDARRPWAGS QEAELSREGP YGRESDHHAR EGSLEQPGFW EGEAERGKAG DPHRRHVHRQ GGSRESRSGS PRTGADGEHR RHRAHRRPGE EGPEDKAERR ARHREGSRPA RGGEGEGEGP DGGERRRRHR HGAPATYEGD ARREDKERRH RRRKENQGSG VPVSGPNLST TRPIQQDLGR QDPPLAEDID NMKNNKLATA ESAAPHGSLG HAGLPQSPAK MGNSTDPGPM LAIPAMATNP QNAASRRTPN NPGNPSNPGP PKTPENSLIV TNPSGTQTNS AKTARKPDHT TVDIPPACPP PLNHTVVQVN KNANPDPLPK KEEEKKEEEE DDRGEDGPKP MPPYSSMFIL STTNPLRRLC HYILNLRYFE MCILMVIAMS SIALAAEDPV QPNAPRNNVL RYFDYVFTGV FTFEMVIKMI DLGLVLHQGA YFRDLWNILD FIVVSGALVA FAFTGNSKGK DINTIKSLRV LRVLRPLKTI KRLPKLKAVF DCVVNSLKNV FNILIVYMLF MFIFAVVAVQ LFKGKFFHCT DESKEFEKDC RGKYLLYEKN EVKARDREWK KYEFHYDNVL WALLTLFTVS TGEGWPQVLK HSVDATFENQ GPSPGYRMEM SIFYVVYFVV FPFFFVNIFV ALIIITFQEQ GDKMMEEYSL EKNERACIDF AISAKPLTRH MPQNKQSFQY RMWQFVVSPP FEYTIMAMIA LNTIVLMMKF YGASVAYENA LRVFNIVFTS LFSLECVLKV MAFGILNYFR DAWNIFDFVT VLGSITDILV TEFGNPNNFI NLSFLRLFRA ARLIKLLRQG YTIRILLWTF VQSFKALPYV CLLIAMLFFI YAIIGMQVFG NIGIDVEDED SDEDEFQITE HNNFRTFFQA LMLLFRSATG EAWHNIMLSC LSGKPCDKNS GILTRECGNE FAYFYFVSFI FLCSFLMLNL FVAVIMDNFE YLTRDSSILG PHHLDEYVRV WAEYDPAAWG RMPYLDMYQM LRHMSPPLGL GKKCPARVAY KRLLRMDLPV ADDNTVHFNS TLMALIRTAL DIKIAKGGAD KQQMDAELRK EMMAIWPNLS QKTLDLLVTP HKSTDLTVGK IYAAMMIMEY YRQSKAKKLQ AMREEQDRTP LMFQRMEPPS PTQEGGPGQN ALPSTQLDPG GALMAHESGL KESPSWVTQR AQEMFQKTGT WSPEQGPPTD MPNSQPNSQS VEMREMGRDG YSDSEHYLPM EGQGRAASMP RLPAENQRRR GRPRGNNLST ISDTSPMKRS ASVLGPKARR LDDYSLERVP PEENQRHHQR RRDRSHRASE RSLGRYTDVD TGLGTDLSMT TQSGDLPSKE RDQERGRPKD RKHRQHHHHH HHHHHPPPPD KDRYAQERPD HGRARARDQR WSRSPSEGRE HMAHRQ* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 237 / 237 | |||||||||||||
| Last intron/exon boundary | 7034 | |||||||||||||
| Theoretical NMD boundary in CDS | 6747 | |||||||||||||
| Length of CDS | 6801 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.02 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.33, LOF (oe): 0.26, misssense (oe): 0.80, synonymous (oe): 1.12 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000638029.1 | |||||||||||||
| Genbank transcript ID | NM_023035 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5959-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA QELTKVEADE QEEEEAANQK LALQKAKEVA EVSPLSAANM SIAVKEQQKN QKPAKSVWEQ RTSEMRKQNL LASREALYNE MDPDERWKAA YTRHLRPDMK THLDRPLVVD PQENRNNNTN KSRAAEPTVD QRLGQQRAED FLRKQARYHD RARDPSGSAG LDARRPWAGS QEAELSREGP YGRESDHHAR EGSLEQPGFW EGEAERGKAG DPHRRHVHRQ GGSRESRSGS PRTGADGEHR RHRAHRRPGE EGPEDKAERR ARHREGSRPA RGGEGEGEGP DGGERRRRHR HGAPATYEGD ARREDKERRH RRRKENQGSG VPVSGPNLST TRPIQQDLGR QDPPLAEDID NMKNNKLATA ESAAPHGSLG HAGLPQSPAK MGNSTDPGPM LAIPAMATNP QNAASRRTPN NPGNPSNPGP PKTPENSLIV TNPSGTQTNS AKTARKPDHT TVDIPPACPP PLNHTVVQVN KNANPDPLPK KEEEKKEEEE DDRGEDGPKP MPPYSSMFIL STTNPLRRLC HYILNLRYFE MCILMVIAMS SIALAAEDPV QPNAPRNNVL RYFDYVFTGV FTFEMVIKMI DLGLVLHQGA YFRDLWNILD FIVVSGALVA FAFTGNSKGK DINTIKSLRV LRVLRPLKTI KRLPKLKAVF DCVVNSLKNV FNILIVYMLF MFIFAVVAVQ LFKGKFFHCT DESKEFEKDC RGKYLLYEKN EVKARDREWK KYEFHYDNVL WALLTLFTVS TGEGWPQVLK HSVDATFENQ GPSPGYRMEM SIFYVVYFVV FPFFFVNIFV ALIIITFQEQ GDKMMEEYSL EKNERACIDF AISAKPLTRH MPQNKQSFQY RMWQFVVSPP FEYTIMAMIA LNTIVLMMKF YGASVAYENA LRVFNIVFTS LFSLECVLKV MAFGILNYFR DAWNIFDFVT VLGSITDILV TEFGNPNNFI NLSFLRLFRA ARLIKLLRQG YTIRILLWTF VQSFKALPYV CLLIAMLFFI YAIIGMQVFG NIGIDVEDED SDEDEFQITE HNNFRTFFQA LMLLFRSATG EAWHNIMLSC LSGKPCDKNS GILTRECGNE FAYFYFVSFI FLCSFLMLNL FVAVIMDNFE YLTRDSSILG PHHLDEYVRV WAEYDPAAWG RMPYLDMYQM LRHMSPPLGL GKKCPARVAY KRLLRMDLPV ADDNTVHFNS TLMALIRTAL DIKIAKGGAD KQQMDAELRK EMMAIWPNLS QKTLDLLVTP HKSTDLTVGK IYAAMMIMEY YRQSKAKKLQ AMREEQDRTP LMFQRMEPPS PTQEGGPGQN ALPSTQLDPG GALMAHESGL KESPSWVTQR AQEMFQKTGT WSPEQGPPTD MPNSQPNSQS VEMREMGRDG YSDSEHYLPM EGQGRAASMP RLPAENQRRR GRPRGNNLST ISDTSPMKRS ASVLGPKARR LDDYSLERVP PEENQRHHQR RRDRSHRASE RSLGRYTDVD TGLGTDLSMT TQSGDLPSKE RDQERGRPKD RKHRQHHHHH HHHHHPPPPD KDRYAQERPD HGRARARDQR WSRSPSEGRE HMAHRQGSSS VSGSPAPSTS GTSTPRRGRR QLPQTPSTPR PHVSYSPVIR KAGGSGPPQQ QQQQQQQQQQ QAVARPGRAA TSGPRRYPGP TAEPLAGDRP PTGGHSSGRS PRMERRVPGP ARSESPRACR HGGARWPASG PHVSEGPPGP RHHGYYRGSD YDEADGPGSG GGEEAMAGAY DAPPPVRHAS SGATGRSPRT PRASGPACAS PSRHGRRLPN GYYPAHGLAR PRGPGSRKGL HEPYSESDDD WC* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 237 / 237 | |||||||||||||
| Last intron/exon boundary | 7034 | |||||||||||||
| Theoretical NMD boundary in CDS | 6747 | |||||||||||||
| Length of CDS | 7539 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.02 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.33, LOF (oe): 0.26, misssense (oe): 0.80, synonymous (oe): 1.12 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000635727.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5944-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAAWGRMPYL DMYQMLRHMS PPLGLGKKCP ARVAYKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE NQRRRGRPRG NNLSTISDTS PMKRSASVLG PKARRLDDYS LERVPPEENQ RHHQRRRDRS HRASERSLGR YTDVDTGLGT DLSMTTQSGD LPSKERDQER GRPKDRKHRQ HHHHHHHHHH PPPPDKDRYA QERPDHGRAR ARDQRWSRSP SEGREHMAHR QGSSSVSGSP APSTSGTSTP RRGRRQLPQT PSTPRPHVSY SPVIRKAGGS GPPQQQQQQQ QQQQQQAVAR PGRAATSGPR RYPGPTAEPL AGDRPPTGGH SSGRSPRMER RVPGPARSES PRACRHGGAR WPASGPHVSE GPPGPRHHGY YRGSDYDEAD GPGSGGGEEA MAGAYDAPPP VRHASSGATG RSPRTPRASG PACASPSRHG RRLPNGYYPA HGLARPRGPG SRKGLHEPYS ESDDDWC* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 6783 | |||||||||||||
| Theoretical NMD boundary in CDS | 6732 | |||||||||||||
| Length of CDS | 7524 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.02 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.33, LOF (oe): 0.26, misssense (oe): 0.80, synonymous (oe): 1.12 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000636012.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5944-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAAWGRMPYL DMYQMLRHMS PPLGLGKKCP ARVAYKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE NQTISDTSPM KRSASVLGPK ARRLDDYSLE RVPPEENQRH HQRRRDRSHR ASERSLGRYT DVDTGLGTDL SMTTQSGDLP SKERDQERGR PKDRKHRQHH HHHHHHHHPP PPDKDRYAQE RPDHGRARAR DQRWSRSPSE GREHMAHRQG SSSVSGSPAP STSGTSTPRR GRRQLPQTPS TPRPHVSYSP VIRKAGGSGP PQQQQQQQQQ QQQQAVARPG RAATSGPRRY PGPTAEPLAG DRPPTGGHSS GRSPRMERRV PGPARSESPR ACRHGGARWP ASGPHVSEGP PGPRHHGYYR GSDYDEADGP GSGGGEEAMA GAYDAPPPVR HASSGATGRS PRTPRASGPA CASPSRHGRR LPNGYYPAHG LARPRGPGSR KGLHEPYSES DDDWC* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 6747 | |||||||||||||
| Theoretical NMD boundary in CDS | 6696 | |||||||||||||
| Length of CDS | 7488 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.02 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.32, LOF (oe): 0.25, misssense (oe): 0.71, synonymous (oe): 1.06 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000636549.1 | |||||||||||||
| Genbank transcript ID | NM_001174080 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5950-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF GILNYFRDAW NIFDFVTVLG SITDILVTEF GNPNNFINLS FLRLFRAARL IKLLRQGYTI RILLWTFVQS FKALPYVCLL IAMLFFIYAI IGMQVFGNIG IDVEDEDSDE DEFQITEHNN FRTFFQALML LFRSATGEAW HNIMLSCLSG KPCDKNSGIL TRECGNEFAY FYFVSFIFLC SFLMLNLFVA VIMDNFEYLT RDSSILGPHH LDEYVRVWAE YDPAAWGRMP YLDMYQMLRH MSPPLGLGKK CPARVAYKRL LRMDLPVADD NTVHFNSTLM ALIRTALDIK IAKGGADKQQ MDAELRKEMM AIWPNLSQKT LDLLVTPHKS TDLTVGKIYA AMMIMEYYRQ SKAKKLQAMR EEQDRTPLMF QRMEPPSPTQ EGGPGQNALP STQLDPGGAL MAHESGLKES PSWVTQRAQE MFQKTGTWSP EQGPPTDMPN SQPNSQSVEM REMGRDGYSD SEHYLPMEGQ GRAASMPRLP AENQRRRGRP RGNNLSTISD TSPMKRSASV LGPKARRLDD YSLERVPPEE NQRHHQRRRD RSHRASERSL GRYTDVDTGL GTDLSMTTQS GDLPSKERDQ ERGRPKDRKH RQHHHHHHHH HHPPPPDKDR YAQERPDHGR ARARDQRWSR SPSEGREHMA HRQ* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 6789 | |||||||||||||
| Theoretical NMD boundary in CDS | 6738 | |||||||||||||
| Length of CDS | 6792 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.01 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.53, LOF (oe): 0.36, misssense (oe): 0.85, synonymous (oe): 1.07 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000636473.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5656-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDAL RRTTIKKSKT DLLNPEEAED QLADIASVGS PFARASIKSA KLENSTFFHK KERRMRFYIR RMVKTQAFYW TVLSLVALNT LCVAIVHYNQ PEWLSDFLYY AEFIFLGLFM SEMFIKMYGL GTRPYFHSSF NCFDCGVIIG SIFEVIWAVI KPGTSFGISV LRALRLLRIF KVTKYWASLR NLVVSLLNSM KSIISLLFLL FLFIVVFALL GMQLFGGQFN FDEGTPPTNF DTFPAAIMTV FQILTGEDWN EVMYDGIKSQ GGVQGGMVFS IYFIVLTLFG NYTLLNVFLA IAVDNLANAQ ELTKDEQEEE EAANQKLALQ KAKEVAEVSP LSAANMSIAV KEQQKNQKPA KSVWEQRTSE MRKQNLLASR EALYNEMDPD ERWKAAYTRH LRPDMKTHLD RPLVVDPQEN RNNNTNKSRA AEPTVDQRLG QQRAEDFLRK QARYHDRARD PSGSAGLDAR RPWAGSQEAE LSREGPYGRE SDHHAREGSL EQPGFWEGEA ERGKAGDPHR RHVHRQGGSR ESRSGSPRTG ADGEHRRHRA HRRPGEEGPE DKAERRARHR EGSRPARGGE GEGEGPDGGE RRRRHRHGAP ATYEGDARRE DKERRHRRRK ENQGSGVPVS GPNLSTTRPI QQDLGRQDPP LAEDIDNMKN NKLATAESAA PHGSLGHAGL PQSPAKMGNS TDPGPMLAIP AMATNPQNAA SRRTPNNPGN PSNPGPPKTP ENSLIVTNPS GTQTNSAKTA RKPDHTTVDI PPACPPPLNH TVVQVNKNAN PDPLPKKEEE KKEEEEDDRG EDGPKPMPPY SSMFILSTTN PLRRLCHYIL NLRYFEMCIL MVIAMSSIAL AAEDPVQPNA PRNNVLRYFD YVFTGVFTFE MVIKMIDLGL VLHQGAYFRD LWNILDFIVV SGALVAFAFT GNSKGKDINT IKSLRVLRVL RPLKTIKRLP KLKAVFDCVV NSLKNVFNIL IVYMLFMFIF AVVAVQLFKG KFFHCTDESK EFEKDCRGKY LLYEKNEVKA RDREWKKYEF HYDNVLWALL TLFTVSTGEG WPQVLKHSVD ATFENQGPSP GYRMEMSIFY VVYFVVFPFF FVNIFVALII ITFQEQGDKM MEEYSLEKNE RACIDFAISA KPLTRHMPQN KQSFQYRMWQ FVVSPPFEYT IMAMIALNTI VLMMKFYGAS VAYENALRVF NIVFTSLFSL ECVLKVMAFG ILNYFRDAWN IFDFVTVLGS ITDILVTEFG NPNNFINLSF LRLFRAARLI KLLRQGYTIR ILLWTFVQSF KVFGNIGIDV EDEDSDEDEF QITEHNNFRT FFQALMLLFR SATGEAWHNI MLSCLSGKPC DKNSGILTRE CGNEFAYFYF VSFIFLCSFL RLLRMDLPVA DDNTVHFNST LMALIRTALD IKIAKGGADK QQMDAELRKE MMAIWPNLSQ KTLDLLVTPH KSTDLTVGKI YAAMMIMEYY RQSKAKKLQA MREEQDRTPL MFQRMEPPSP TQEGGPGQNA LPSTQLDPGG ALMAHESGLK ESPSWVTQRA QEMFQKTGTW SPEQGPPTDM PNSQPNSQSV EMREMGRDGY SDSEHYLPME GQGRAASMPR LPAENQRRRG RPRGNNLSTI SDTSPMKRSA SVLGPKARRL DDYSLERVPP EENQRHHQRR RDRSHRASER SLGRYTDVDT GLGTDLSMTT QSGDLPSKER DQERGRPKDR KHRQHHHHHH HHHHPPPPDK DRYAQERPDH GRARARDQRW SRSPSEGREH MAHRQ* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 256 / 256 | |||||||||||||
| Last intron/exon boundary | 6750 | |||||||||||||
| Theoretical NMD boundary in CDS | 6444 | |||||||||||||
| Length of CDS | 6498 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.02 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.33, LOF (oe): 0.26, misssense (oe): 0.71, synonymous (oe): 1.06 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000664864.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.6145-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MTPCTTAARG TPSALQDTRP PRLSICFEGP PLRRRGGVVD HRDVILAHQA HKIHSTPQAR RKEWEMARFG DEMPARYGGG GSGAAAGVVV GSGGGRGAGG SRQGGQPGAQ RMYKQSMAQR ARTMALYNPI PVRQNCLTVN RSLFLFSEDN VVRKYAKKIT EWPPFEYMIL ATIIANCIVL ALEQHLPDDD KTPMSERLDD TEPYFIGIFC FEAGIKIIAL GFAFHKGSYL RNGWNVMDFV VVLTGILATV GTEFDLRTLR AVRVLRPLKL VSGIPSLQVV LKSIMKAMIP LLQIGLLLFF AILIFAIIGL EFYMGKFHTT CFEEGTDDIQ GESPAPCGTE EPARTCPNGT KCQPYWEGPN NGITQFDNIL FAVLTVFQCI TMEGWTDLLY NSNDASGNTW NWLYFIPLII IGSFFMLNLV LGVLSGEFAK ERERVENRRA FLKLRRQQQI ERELNGYMEW ISKAEEVILA EDETDGEQRH PFDGALRRTT IKKSKTDLLN PEEAEDQLAD IASVGSPFAR ASIKSAKLEN STFFHKKERR MRFYIRRMVK TQAFYWTVLS LVALNTLCVA IVHYNQPEWL SDFLYYAEFI FLGLFMSEMF IKMYGLGTRP YFHSSFNCFD CGVIIGSIFE VIWAVIKPGT SFGISVLRAL RLLRIFKVTK YWASLRNLVV SLLNSMKSII SLLFLLFLFI VVFALLGMQL FGGQFNFDEG TPPTNFDTFP AAIMTVFQIL TGEDWNEVMY DGIKSQGGVQ GGMVFSIYFI VLTLFGNYTL LNVFLAIAVD NLANAQELTK DEQEEEEAAN QKLALQKAKE VAEVSPLSAA NMSIAVKEQQ KNQKPAKSVW EQRTSEMRKQ NLLASREALY NEMDPDERWK AAYTRHLRPD MKTHLDRPLV VDPQENRNNN TNKSRAAEPT VDQRLGQQRA EDFLRKQARY HDRARDPSGS AGLDARRPWA GSQEAELSRE GPYGRESDHH AREGSLEQPG FWEGEAERGK AGDPHRRHVH RQGGSRESRS GSPRTGADGE HRRHRAHRRP GEEGPEDKAE RRARHREGSR PARGGEGEGE GPDGGERRRR HRHGAPATYE GDARREDKER RHRRRKENQG SGVPVSGPNL STTRPIQQDL GRQDPPLAED IDNMKNNKLA TAESAAPHGS LGHAGLPQSP AKMGNSTDPG PMLAIPAMAT NPQNAASRRT PNNPGNPSNP GPPKTPENSL IVTNPSGTQT NSAKTARKPD HTTVDIPPAC PPPLNHTVVQ VNKNANPDPL PKKEEEKKEE EEDDRGEDGP KPMPPYSSMF ILSTTNPLRR LCHYILNLRY FEMCILMVIA MSSIALAAED PVQPNAPRNN VLRYFDYVFT GVFTFEMVIK MIDLGLVLHQ GAYFRDLWNI LDFIVVSGAL VAFAFTGNSK GKDINTIKSL RVLRVLRPLK TIKRLPKLKA VFDCVVNSLK NVFNILIVYM LFMFIFAVVA VQLFKGKFFH CTDESKEFEK DCRGKYLLYE KNEVKARDRE WKKYEFHYDN VLWALLTLFT VSTGEGWPQV LKHSVDATFE NQGPSPGYRM EMSIFYVVYF VVFPFFFVNI FVALIIITFQ EQGDKMMEEY SLEKNERACI DFAISAKPLT RHMPQNKQSF QYRMWQFVVS PPFEYTIMAM IALNTIVLMM KFYGASVAYE NALRVFNIVF TSLFSLECVL KVMAFGILNY FRDAWNIFDF VTVLGSITDI LVTEFGNPNN FINLSFLRLF RAARLIKLLR QGYTIRILLW TFVQSFKALP YVCLLIAMLF FIYAIIGMQV FGNIGIDVED EDSDEDEFQI TEHNNFRTFF QALMLLFRSA TGEAWHNIML SCLSGKPCDK NSGILTRECG NEFAYFYFVS FIFLCSFLML NLFVAVIMDN FEYLTRDSSI LGPHHLDEYV RVWAEYDPAA WGRMPYLDMY QMLRHMSPPL GLGKKCPARV AYKRLLRMDL PVADDNTVHF NSTLMALIRT ALDIKIAKGG ADKQQMDAEL RKEMMAIWPN LSQKTLDLLV TPHKSTDLTV GKIYAAMMIM EYYRQSKAKK LQAMREEQDR TPLMFQRMEP PSPTQEGGPG QNALPSTQLD PGGALMAHES GLKESPSWVT QRAQEMFQKT GTWSPEQGPP TDMPNSQPNS QSVEMREMGR DGYSDSEHYL PMEGQGRAAS MPRLPAENQR RRGRPRGNNL STISDTSPMK RSASVLGPKA RRLDDYSLER VPPEENQRHH QRRRDRSHRA SERSLGRYTD VDTGLGTDLS MTTQSGDLPS KERDQERGRP KDRKHRQHHH HHHHHHHPPP PDKDRYAQER PDHGRARARD QRWSRSPSEG REHMAHRQ* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 6984 | |||||||||||||
| Theoretical NMD boundary in CDS | 6933 | |||||||||||||
| Length of CDS | 6987 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.02 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.32, LOF (oe): 0.25, misssense (oe): 0.71, synonymous (oe): 1.06 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000637927.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5947-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDVG ALRRTTIKKS KTDLLNPEEA EDQLADIASV GSPFARASIK SAKLENSTFF HKKERRMRFY IRRMVKTQAF YWTVLSLVAL NTLCVAIVHY NQPEWLSDFL YYAEFIFLGL FMSEMFIKMY GLGTRPYFHS SFNCFDCGVI IGSIFEVIWA VIKPGTSFGI SVLRALRLLR IFKVTKYWAS LRNLVVSLLN SMKSIISLLF LLFLFIVVFA LLGMQLFGGQ FNFDEGTPPT NFDTFPAAIM TVFQILTGED WNEVMYDGIK SQGGVQGGMV FSIYFIVLTL FGNYTLLNVF LAIAVDNLAN AQELTKDEQE EEEAANQKLA LQKAKEVAEV SPLSAANMSI AVKEQQKNQK PAKSVWEQRT SEMRKQNLLA SREALYNEMD PDERWKAAYT RHLRPDMKTH LDRPLVVDPQ ENRNNNTNKS RAAEPTVDQR LGQQRAEDFL RKQARYHDRA RDPSGSAGLD ARRPWAGSQE AELSREGPYG RESDHHAREG SLEQPGFWEG EAERGKAGDP HRRHVHRQGG SRESRSGSPR TGADGEHRRH RAHRRPGEEG PEDKAERRAR HREGSRPARG GEGEGEGPDG GERRRRHRHG APATYEGDAR REDKERRHRR RKENQGSGVP VSGPNLSTTR PIQQDLGRQD PPLAEDIDNM KNNKLATAES AAPHGSLGHA GLPQSPAKMG NSTDPGPMLA IPAMATNPQN AASRRTPNNP GNPSNPGPPK TPENSLIVTN PSGTQTNSAK TARKPDHTTV DIPPACPPPL NHTVVQVNKN ANPDPLPKKE EEKKEEEEDD RGEDGPKPMP PYSSMFILST TNPLRRLCHY ILNLRYFEMC ILMVIAMSSI ALAAEDPVQP NAPRNNVLRY FDYVFTGVFT FEMVIKMIDL GLVLHQGAYF RDLWNILDFI VVSGALVAFA FTGNSKGKDI NTIKSLRVLR VLRPLKTIKR LPKLKAVFDC VVNSLKNVFN ILIVYMLFMF IFAVVAVQLF KGKFFHCTDE SKEFEKDCRG KYLLYEKNEV KARDREWKKY EFHYDNVLWA LLTLFTVSTG EGWPQVLKHS VDATFENQGP SPGYRMEMSI FYVVYFVVFP FFFVNIFVAL IIITFQEQGD KMMEEYSLEK NERACIDFAI SAKPLTRHMP QNKQSFQYRM WQFVVSPPFE YTIMAMIALN TIVLMMKFYG ASVAYENALR VFNIVFTSLF SLECVLKVMA FGILNYFRDA WNIFDFVTVL GSITDILVTE FGNNFINLSF LRLFRAARLI KLLRQGYTIR ILLWTFVQSF KALPYVCLLI AMLFFIYAII GMQVFGNIGI DVEDEDSDED EFQITEHNNF RTFFQALMLL FRSATGEAWH NIMLSCLSGK PCDKNSGILT RECGNEFAYF YFVSFIFLCS FLMLNLFVAV IMDNFEYLTR DSSILGPHHL DEYVRVWAEY DPAACGRIHY KDMYSLLRVI SPPLGLGKKC PHRVACKRLL RMDLPVADDN TVHFNSTLMA LIRTALDIKI AKGGADKQQM DAELRKEMMA IWPNLSQKTL DLLVTPHKST DLTVGKIYAA MMIMEYYRQS KAKKLQAMRE EQDRTPLMFQ RMEPPSPTQE GGPGQNALPS TQLDPGGALM AHESGLKESP SWVTQRAQEM FQKTGTWSPE QGPPTDMPNS QPNSQSVEMR EMGRDGYSDS EHYLPMEGQG RAASMPRLPA ENQRRRGRPR GNNLSTISDT SPMKRSASVL GPKARRLDDY SLERVPPEEN QRHHQRRRDR SHRASERSLG RYTDVDTGLG TDLSMTTQSG DLPSKERDQE RGRPKDRKHR QHHHHHHHHH HPPPPDKDRY AQERPDHGRA RARDQRWSRS PSEGREHMAH RQ* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 32 / 32 | |||||||||||||
| Last intron/exon boundary | 6817 | |||||||||||||
| Theoretical NMD boundary in CDS | 6735 | |||||||||||||
| Length of CDS | 6789 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.01 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.32, LOF (oe): 0.25, misssense (oe): 0.71, synonymous (oe): 1.06 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000637276.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | CAC1A_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5944-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAAWGRMPYL DMYQMLRHMS PPLGLGKKCP ARVAYKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE NQTISDTSPM KRSASVLGPK ARRLDDYSLE RVPPEENQRH HQRRRDRSHR ASERSLGRYT DVDTGLGTDL SMTTQSGDLP SKERDQERGR PKDRKHRQHH HHHHHHHHPP PPDKDRYAQE RPDHGRARAR DQRWSRSPSE GREHMAHRQ* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 6747 | |||||||||||||
| Theoretical NMD boundary in CDS | 6696 | |||||||||||||
| Length of CDS | 6750 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.01 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.33, LOF (oe): 0.26, misssense (oe): 0.80, synonymous (oe): 1.13 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000573710.7 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5947-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDVG ALRRTTIKKS KTDLLNPEEA EDQLADIASV GSPFARASIK SAKLENSTFF HKKERRMRFY IRRMVKTQAF YWTVLSLVAL NTLCVAIVHY NQPEWLSDFL YYAEFIFLGL FMSEMFIKMY GLGTRPYFHS SFNCFDCGVI IGSIFEVIWA VIKPGTSFGI SVLRALRLLR IFKVTKYWAS LRNLVVSLLN SMKSIISLLF LLFLFIVVFA LLGMQLFGGQ FNFDEGTPPT NFDTFPAAIM TVFQILTGED WNEVMYDGIK SQGGVQGGMV FSIYFIVLTL FGNYTLLNVF LAIAVDNLAN AQELTKDEQE EEEAANQKLA LQKAKEVAEV SPLSAANMSI AVKEQQKNQK PAKSVWEQRT SEMRKQNLLA SREALYNEMD PDERWKAAYT RHLRPDMKTH LDRPLVVDPQ ENRNNNTNKS RAAEPTVDQR LGQQRAEDFL RKQARYHDRA RDPSGSAGLD ARRPWAGSQE AELSREGPYG RESDHHAREG SLEQPGFWEG EAERGKAGDP HRRHVHRQGG SRESRSGSPR TGADGEHRRH RAHRRPGEEG PEDKAERRAR HREGSRPARG GEGEGEGPDG GERRRRHRHG APATYEGDAR REDKERRHRR RKENQGSGVP VSGPNLSTTR PIQQDLGRQD PPLAEDIDNM KNNKLATAES AAPHGSLGHA GLPQSPAKMG NSTDPGPMLA IPAMATNPQN AASRRTPNNP GNPSNPGPPK TPENSLIVTN PSGTQTNSAK TARKPDHTTV DIPPACPPPL NHTVVQVNKN ANPDPLPKKE EEKKEEEEDD RGEDGPKPMP PYSSMFILST TNPLRRLCHY ILNLRYFEMC ILMVIAMSSI ALAAEDPVQP NAPRNNVLRY FDYVFTGVFT FEMVIKMIDL GLVLHQGAYF RDLWNILDFI VVSGALVAFA FTGNSKGKDI NTIKSLRVLR VLRPLKTIKR LPKLKAVFDC VVNSLKNVFN ILIVYMLFMF IFAVVAVQLF KGKFFHCTDE SKEFEKDCRG KYLLYEKNEV KARDREWKKY EFHYDNVLWA LLTLFTVSTG EGWPQVLKHS VDATFENQGP SPGYRMEMSI FYVVYFVVFP FFFVNIFVAL IIITFQEQGD KMMEEYSLEK NERACIDFAI SAKPLTRHMP QNKQSFQYRM WQFVVSPPFE YTIMAMIALN TIVLMMKFYG ASVAYENALR VFNIVFTSLF SLECVLKVMA FGILNYFRDA WNIFDFVTVL GSITDILVTE FGNNFINLSF LRLFRAARLI KLLRQGYTIR ILLWTFVQSF KALPYVCLLI AMLFFIYAII GMQVFGNIGI DVEDEDSDED EFQITEHNNF RTFFQALMLL FRSATGEAWH NIMLSCLSGK PCDKNSGILT RECGNEFAYF YFVSFIFLCS FLMLNLFVAV IMDNFEYLTR DSSILGPHHL DEYVRVWAEY DPAACGRIHY KDMYSLLRVI SPPLGLGKKC PHRVACKRLL RMDLPVADDN TVHFNSTLMA LIRTALDIKI AKGGADKQQM DAELRKEMMA IWPNLSQKTL DLLVTPHKST DLTVGKIYAA MMIMEYYRQS KAKKLQAMRE EQDRTPLMFQ RMEPPSPTQE GGPGQNALPS TQLDPGGALM AHESGLKESP SWVTQRAQEM FQKTGTWSPE QGPPTDMPNS QPNSQSVEMR EMGRDGYSDS EHYLPMEGQG RAASMPRLPA ENQRRRGRPR GNNLSTISDT SPMKRSASVL GPKARRLDDY SLERVPPEEN QRHHQRRRDR SHRASERSLG RYTDVDTGLG TDLSMTTQSG DLPSKERDQE RGRPKDRKHR QHHHHHHHHH HPPPPDKDRY AQERPDHGRA RARDQRWSRS PSEGREHMAH RQGSSSVSGS PAPSTSGTST PRRGRRQLPQ TPSTPRPHVS YSPVIRKAGG SGPPQQQQQQ QQQQQQQAVA RPGRAATSGP RRYPGPTAEP LAGDRPPTGG HSSGRSPRME RRVPGPARSE SPRACRHGGA RWPASGPHVS EGPPGPRHHG YYRGSDYDEA DGPGSGGGEE AMAGAYDAPP PVRHASSGAT GRSPRTPRAS GPACASPSRH GRRLPNGYYP AHGLARPRGP GSRKGLHEPY SESDDDWC* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 32 / 32 | |||||||||||||
| Last intron/exon boundary | 6817 | |||||||||||||
| Theoretical NMD boundary in CDS | 6735 | |||||||||||||
| Length of CDS | 7527 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.02 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.49, LOF (oe): 0.34, misssense (oe): 1.02, synonymous (oe): 1.21 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000585802.7 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5947-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDAL RRTTIKKSKT DLLNPEEAED QLADIASVGS PFARASIKSA KLENSTFFHK KERRMRFYIR RMVKTQAFYW TVLSLVALNT LCVAIVHYNQ PEWLSDFLYY AEFIFLGLFM SEMFIKMYGL GTRPYFHSSF NCFDCGVIIG SIFEVIWAVI KPGTSFGISV LRALRLLRIF KVTKYWASLR NLVVSLLNSM KSIISLLFLL FLFIVVFALL GMQLFGGQFN FDEGTPPTNF DTFPAAIMTV FQILTGEDWN EVMYDGIKSQ GGVQGGMVFS IYFIVLTLFG NYTLLNVFLA IAVDNLANAQ ELTKDEQEEE EAANQKLALQ KAKEVAEVSP LSAANMSIAV KEQQKNQKPA KSVWEQRTSE MRKQNLLASR EALYNEMDPD ERWKAAYTRH LRPDMKTHLD RPLVVDPQEN RNNNTNKSRA AEPTVDQRLG QQRAEDFLRK QARYHDRARD PSGSAGLDAR RPWAGSQEAE LSREGPYGRE SDHHAREGSL EQPGFWEGEA ERGKAGDPHR RHVHRQGGSR ESRSGSPRTG ADGEHRRHRA HRRPGEEGPE DKAERRARHR EGSRPARGGE GEGEGPDGGE RRRRHRHGAP ATYEGDARRE DKERRHRRRK ENQGSGVPVS GPNLSTTRPI QQDLGRQDPP LAEDIDNMKN NKLATAESAA PHGSLGHAGL PQSPAKMGNS TDPGPMLAIP AMATNPQNAA SRRTPNNPGN PSNPGPPKTP ENSLIVTNPS GTQTNSAKTA RKPDHTTVDI PPACPPPLNH TVVQVNKNAN PDPLPKKEEE KKEEEEDDRG EDGPKPMPPY SSMFILSTTN PLRRLCHYIL NLRYFEMCIL MVIAMSSIAL AAEDPVQPNA PRNNVLRYFD YVFTGVFTFE MVIKMIDLGL VLHQGAYFRD LWNILDFIVV SGALVAFAFT GNSKGKDINT IKSLRVLRVL RPLKTIKRLP KLKAVFDCVV NSLKNVFNIL IVYMLFMFIF AVVAVQLFKG KFFHCTDESK EFEKDCRGKY LLYEKNEVKA RDREWKKYEF HYDNVLWALL TLFTVSTGEG WPQVLKHSVD ATFENQGPSP GYRMEMSIFY VVYFVVFPFF FVNIFVALII ITFQEQGDKM MEEYSLEKNE RACIDFAISA KPLTRHMPQN KQSFQYRMWQ FVVSPPFEYT IMAMIALNTI VLMMKFYGAS VAYENALRVF NIVFTSLFSL ECVLKVMAFG ILNYFRDAWN IFDFVTVLGS ITDILVTEFG NPNNFINLSF LRLFRAARLI KLLRQGYTIR ILLWTFVQSF KALPYVCLLI AMLFFIYAII GMQVFGNIGI DVEDEDSDED EFQITEHNNF RTFFQALMLL FRSATGEAWH NIMLSCLSGK PCDKNSGILT RECGNEFAYF YFVSFIFLCS FLMLNLFVAV IMDNFEYLTR DSSILGPHHL DEYVRVWAEY DPAAWGRMPY LDMYQMLRHM SPPLGLGKKC PARVAYKRLL RMDLPVADDN TVHFNSTLMA LIRTALDIKI AKGGADKQQM DAELRKEMMA IWPNLSQKTL DLLVTPHKST DLTVGKIYAA MMIMEYYRQS KAKKLQAMRE EQDRTPLMFQ RMEPPSPTQE GGPGQNALPS TQLDPGGALM AHESGLKESP SWVTQRAQEM FQKTGTWSPE QGPPTDMPNS QPNSQSVEMR EMGRDGYSDS EHYLPMEGQG RAASMPRLPA ENQTISDTSP MKRSASVLGP KARRLDDYSL ERVPPEENQR HHQRRRDRSH RASERSLGRY TDVDTGLGTD LSMTTQSGDL PSKERDQERG RPKDRKHRQH HHHHHHHHHP PPPDKDRYAQ ERPDHGRARA RDQRWSRSPS EGREHMAHRQ GSSSVSGSPA PSTSGTSTPR RGRRQLPQTP STPRPHVSYS PVIRKAGGSG PPQQQQQQQQ QQQQQAVARP GRAATSGPRR YPGPTAEPLA GDRPPTGGHS SGRSPRMERR VPGPARSESP RACRHGGARW PASGPHVSEG PPGPRHHGYY RGSDYDEADG PGSGGGEEAM AGAYDAPPPV RHASSGATGR SPRTPRASGP ACASPSRHGR RLPNGYYPAH GLARPRGPGS RKGLHEPYSE SDDDWC* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 256 / 256 | |||||||||||||
| Last intron/exon boundary | 7005 | |||||||||||||
| Theoretical NMD boundary in CDS | 6699 | |||||||||||||
| Length of CDS | 7491 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.02 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 | Chr19:13212742T>C (GRCh38) | |||||||||||||
| Gene symbol | CACNA1A | |||||||||||||
| Gene constraints | LOEUF: 0.31, LOF (oe): 0.24, misssense (oe): 0.72, synonymous (oe): 1.07 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000636389.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.5944-2A>G g.411748A>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | alteration within used splice site, likely to disturb normal splicing MaxEntScan:
| |||||||||||||
| Distance from splice site | 2 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 19 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCAGGACCGGACACCCCTCATGT | |||||||||||||
| Altered gDNA sequence snippet | TGCTCTCTGCCCCATTCCCCGGGACCGGACACCCCTCATGT | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MARFGDEMPA RYGGGGSGAA AGVVVGSGGG RGAGGSRQGG QPGAQRMYKQ SMAQRARTMA LYNPIPVRQN CLTVNRSLFL FSEDNVVRKY AKKITEWPPF EYMILATIIA NCIVLALEQH LPDDDKTPMS ERLDDTEPYF IGIFCFEAGI KIIALGFAFH KGSYLRNGWN VMDFVVVLTG ILATVGTEFD LRTLRAVRVL RPLKLVSGIP SLQVVLKSIM KAMIPLLQIG LLLFFAILIF AIIGLEFYMG KFHTTCFEEG TDDIQGESPA PCGTEEPART CPNGTKCQPY WEGPNNGITQ FDNILFAVLT VFQCITMEGW TDLLYNSNDA SGNTWNWLYF IPLIIIGSFF MLNLVLGVLS GEFAKERERV ENRRAFLKLR RQQQIERELN GYMEWISKAE EVILAEDETD GEQRHPFDGA LRRTTIKKSK TDLLNPEEAE DQLADIASVG SPFARASIKS AKLENSTFFH KKERRMRFYI RRMVKTQAFY WTVLSLVALN TLCVAIVHYN QPEWLSDFLY YAEFIFLGLF MSEMFIKMYG LGTRPYFHSS FNCFDCGVII GSIFEVIWAV IKPGTSFGIS VLRALRLLRI FKVTKYWASL RNLVVSLLNS MKSIISLLFL LFLFIVVFAL LGMQLFGGQF NFDEGTPPTN FDTFPAAIMT VFQILTGEDW NEVMYDGIKS QGGVQGGMVF SIYFIVLTLF GNYTLLNVFL AIAVDNLANA QELTKDEQEE EEAANQKLAL QKAKEVAEVS PLSAANMSIA VKEQQKNQKP AKSVWEQRTS EMRKQNLLAS REALYNEMDP DERWKAAYTR HLRPDMKTHL DRPLVVDPQE NRNNNTNKSR AAEPTVDQRL GQQRAEDFLR KQARYHDRAR DPSGSAGLDA RRPWAGSQEA ELSREGPYGR ESDHHAREGS LEQPGFWEGE AERGKAGDPH RRHVHRQGGS RESRSGSPRT GADGEHRRHR AHRRPGEEGP EDKAERRARH REGSRPARGG EGEGEGPDGG ERRRRHRHGA PATYEGDARR EDKERRHRRR KENQGSGVPV SGPNLSTTRP IQQDLGRQDP PLAEDIDNMK NNKLATAESA APHGSLGHAG LPQSPAKMGN STDPGPMLAI PAMATNPQNA ASRRTPNNPG NPSNPGPPKT PENSLIVTNP SGTQTNSAKT ARKPDHTTVD IPPACPPPLN HTVVQVNKNA NPDPLPKKEE EKKEEEEDDR GEDGPKPMPP YSSMFILSTT NPLRRLCHYI LNLRYFEMCI LMVIAMSSIA LAAEDPVQPN APRNNVLRYF DYVFTGVFTF EMVIKMIDLG LVLHQGAYFR DLWNILDFIV VSGALVAFAF TGNSKGKDIN TIKSLRVLRV LRPLKTIKRL PKLKAVFDCV VNSLKNVFNI LIVYMLFMFI FAVVAVQLFK GKFFHCTDES KEFEKDCRGK YLLYEKNEVK ARDREWKKYE FHYDNVLWAL LTLFTVSTGE GWPQVLKHSV DATFENQGPS PGYRMEMSIF YVVYFVVFPF FFVNIFVALI IITFQEQGDK MMEEYSLEKN ERACIDFAIS AKPLTRHMPQ NKQSFQYRMW QFVVSPPFEY TIMAMIALNT IVLMMKFYGA SVAYENALRV FNIVFTSLFS LECVLKVMAF GILNYFRDAW NIFDFVTVLG SITDILVTEF GNNFINLSFL RLFRAARLIK LLRQGYTIRI LLWTFVQSFK ALPYVCLLIA MLFFIYAIIG MQVFGNIGID VEDEDSDEDE FQITEHNNFR TFFQALMLLF RSATGEAWHN IMLSCLSGKP CDKNSGILTR ECGNEFAYFY FVSFIFLCSF LMLNLFVAVI MDNFEYLTRD SSILGPHHLD EYVRVWAEYD PAACGRIHYK DMYSLLRVIS PPLGLGKKCP HRVACKRLLR MDLPVADDNT VHFNSTLMAL IRTALDIKIA KGGADKQQMD AELRKEMMAI WPNLSQKTLD LLVTPHKSTD LTVGKIYAAM MIMEYYRQSK AKKLQAMREE QDRTPLMFQR MEPPSPTQEG GPGQNALPST QLDPGGALMA HESGLKESPS WVTQRAQEMF QKTGTWSPEQ GPPTDMPNSQ PNSQSVEMRE MGRDGYSDSE HYLPMEGQGR AASMPRLPAE NQRRRGRPRG NNLSTISDTS PMKRSASVLG PKARRLDDYS LERVPPEENQ RHHQRRRDRS HRASERSLGR YTDVDTGLGT DLSMTTQSGD LPSKERDQER GRPKDRKHRQ HHHHHHHHHH PPPPDKDRYA QERPDHGRAR ARDQRWSRSP SEGREHMAHR QFRKWKPSPL NIWYQHSAAG PPPAPPDPLH PPATRVLFPC DP* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 49 / 49 | |||||||||||||
| Last intron/exon boundary | 6831 | |||||||||||||
| Theoretical NMD boundary in CDS | 6732 | |||||||||||||
| Length of CDS | 6909 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 411748 | |||||||||||||
| Chromosomal position | 13212742 | |||||||||||||
| Speed | 0.01 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