Paralogue Annotation for CACNA1C residue 1265

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1265
Reference Amino Acid: E - Glutamate
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1265

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AE1574KBrugada syndromeHigh9 19808440, 20129283, 25525159

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.



CACNA1CCLAMQHYGQSCLFKIAMNILNMLFTGLFTV>E<MILKLIAFKPKHYFCDAWNTFDALIVVGSI1295
CACNA1AVLMMKFYGASVAYENALRVFNIVFTSLFSL>E<CVLKVMAFGILNYFRDAWNIFDFVTVLGSI1642
CACNA1BVLMMKFYDAPYEYELMLKCLNIVFTSMFSM>E<CVLKIIAFGVLNYFRDAWNVFDFVTVLGSI1548
CACNA1DCLAMQHYEQSKMFNDAMDILNMVFTGVFTV>E<MVLKVIAFKPKGYFSDAWNTFDSLIVIGSI1301
CACNA1EVLMMKYYSAPCTYELALKYLNIAFTMVFSL>E<CVLKVIAFGFLNYFRDTWNIFDFITVIGSI1554
CACNA1FALAMQHYEQTAPFNYAMDILNMVFTGLFTI>E<MVLKIIAFKPKHYFTDAWNTFDALIVVGSI1266
CACNA1GTMAMEHYQQPQILDEALKICNYIFTVIFVL>E<SVFKLVAFGFRRFFQDRWNQLDLAIVLLSI1687
CACNA1HTMSMEHYNQPKSLDEALKYCNYVFTIVFVF>E<AALKLVAFGFRRFFKDRWNQLDLAIVLLSL1693
CACNA1ITMSLEHYNQPTSLETALKYCNYMFTTVFVL>E<AVLKLVAFGLRRFFKDRWNQLDLAIVLLSV1563
CACNA1SCLGMQHYNQSEQMNHISDILNVAFTIIFTL>E<MILKLMAFKARGYFGDPWNVFDFLIVIGSI1194
SCN10ATMMVETDDQSEEKTKILGKINQFFVAVFTG>E<CVMKMFALR-QYYFTNGWNVFDFIVVVLSI1551
SCN11ASMMAESYNQPKAMKSILDHLNWVFVVIFTL>E<CLIKIFALR-QYYFTNGWNLFDCVVVLLSI1441
SCN1ATMMVETDDQSEYVTTILSRINLVFIVLFTG>E<CVLKLISLR-HYYFTIGWNIFDFVVVILSI1616
SCN2ATMMVETDDQSQEMTNILYWINLVFIVLFTG>E<CVLKLISLR-YYYFTIGWNIFDFVVVILSI1606
SCN3ATMMVETDDQGKYMTLVLSRINLVFIVLFTG>E<FVLKLVSLR-HYYFTIGWNIFDFVVVILSI1601
SCN4ATMMVETDNQSQLKVDILYNINMIFIIIFTG>E<CVLKMLALR-QYYFTVGWNIFDFVVVILSI1428
SCN5ATMMVETDDQSPEKINILAKINLLFVAIFTG>E<CIVKLAALR-HYYFTNSWNIFDFVVVILSI1603
SCN7AAMMIDTDVQSLQMSIALYWINSIFVMLYTM>E<CILKLIAFR-CFYFTIAWNIFDFMVVIFSI1326
SCN8ATMMVETDTQSKQMENILYWINLVFVIFFTC>E<CVLKMFALR-HYYFTIGWNIFDFVVVILSI1597
SCN9ATMMVEKEGQSQHMTEVLYWINVVFIILFTG>E<CVLKLISLR-HYYFTVGWNIFDFVVVIISI1579
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1265 for CACNA1C.