Paralogue Annotation for CACNA1C residue 1262

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1262
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1262

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AF1571CBrugada syndromeHigh9 20129283

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.



CACNA1CNTICLAMQHYGQSCLFKIAMNILNMLFTGL>F<TVEMILKLIAFKPKHYFCDAWNTFDALIVV1292
CACNA1ANTIVLMMKFYGASVAYENALRVFNIVFTSL>F<SLECVLKVMAFGILNYFRDAWNIFDFVTVL1639
CACNA1BNTVVLMMKFYDAPYEYELMLKCLNIVFTSM>F<SMECVLKIIAFGVLNYFRDAWNVFDFVTVL1545
CACNA1DNTLCLAMQHYEQSKMFNDAMDILNMVFTGV>F<TVEMVLKVIAFKPKGYFSDAWNTFDSLIVI1298
CACNA1ENTVVLMMKYYSAPCTYELALKYLNIAFTMV>F<SLECVLKVIAFGFLNYFRDTWNIFDFITVI1551
CACNA1FNTVALAMQHYEQTAPFNYAMDILNMVFTGL>F<TIEMVLKIIAFKPKHYFTDAWNTFDALIVV1263
CACNA1GNVVTMAMEHYQQPQILDEALKICNYIFTVI>F<VLESVFKLVAFGFRRFFQDRWNQLDLAIVL1684
CACNA1HNVITMSMEHYNQPKSLDEALKYCNYVFTIV>F<VFEAALKLVAFGFRRFFKDRWNQLDLAIVL1690
CACNA1INVVTMSLEHYNQPTSLETALKYCNYMFTTV>F<VLEAVLKLVAFGLRRFFKDRWNQLDLAIVL1560
CACNA1SNTICLGMQHYNQSEQMNHISDILNVAFTII>F<TLEMILKLMAFKARGYFGDPWNVFDFLIVI1191
SCN10ANMITMMVETDDQSEEKTKILGKINQFFVAV>F<TGECVMKMFALR-QYYFTNGWNVFDFIVVV1548
SCN11ANMISMMAESYNQPKAMKSILDHLNWVFVVI>F<TLECLIKIFALR-QYYFTNGWNLFDCVVVL1438
SCN1ANMVTMMVETDDQSEYVTTILSRINLVFIVL>F<TGECVLKLISLR-HYYFTIGWNIFDFVVVI1613
SCN2ANMVTMMVETDDQSQEMTNILYWINLVFIVL>F<TGECVLKLISLR-YYYFTIGWNIFDFVVVI1603
SCN3ANMVTMMVETDDQGKYMTLVLSRINLVFIVL>F<TGEFVLKLVSLR-HYYFTIGWNIFDFVVVI1598
SCN4ANMVTMMVETDNQSQLKVDILYNINMIFIII>F<TGECVLKMLALR-QYYFTVGWNIFDFVVVI1425
SCN5ANMVTMMVETDDQSPEKINILAKINLLFVAI>F<TGECIVKLAALR-HYYFTNSWNIFDFVVVI1600
SCN7AQAIAMMIDTDVQSLQMSIALYWINSIFVML>Y<TMECILKLIAFR-CFYFTIAWNIFDFMVVI1323
SCN8ANMVTMMVETDTQSKQMENILYWINLVFVIF>F<TCECVLKMFALR-HYYFTIGWNIFDFVVVI1594
SCN9ANMVTMMVEKEGQSQHMTEVLYWINVVFIIL>F<TGECVLKLISLR-HYYFTVGWNIFDFVVVI1576
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1262 for CACNA1C.