Paralogue Annotation for CACNA1C residue 1267

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1267
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1267

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AV1589GDravet syndromeMedium9 26096185

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.



CACNA1CAMQHYGQSCLFKIAMNILNMLFTGLFTVEM>I<LKLIAFKPKHYFCDAWNTFDALIVVGSIVD1297
CACNA1AMMKFYGASVAYENALRVFNIVFTSLFSLEC>V<LKVMAFGILNYFRDAWNIFDFVTVLGSITD1644
CACNA1BMMKFYDAPYEYELMLKCLNIVFTSMFSMEC>V<LKIIAFGVLNYFRDAWNVFDFVTVLGSITD1550
CACNA1DAMQHYEQSKMFNDAMDILNMVFTGVFTVEM>V<LKVIAFKPKGYFSDAWNTFDSLIVIGSIID1303
CACNA1EMMKYYSAPCTYELALKYLNIAFTMVFSLEC>V<LKVIAFGFLNYFRDTWNIFDFITVIGSITE1556
CACNA1FAMQHYEQTAPFNYAMDILNMVFTGLFTIEM>V<LKIIAFKPKHYFTDAWNTFDALIVVGSIVD1268
CACNA1GAMEHYQQPQILDEALKICNYIFTVIFVLES>V<FKLVAFGFRRFFQDRWNQLDLAIVLLSIMG1689
CACNA1HSMEHYNQPKSLDEALKYCNYVFTIVFVFEA>A<LKLVAFGFRRFFKDRWNQLDLAIVLLSLMG1695
CACNA1ISLEHYNQPTSLETALKYCNYMFTTVFVLEA>V<LKLVAFGLRRFFKDRWNQLDLAIVLLSVMG1565
CACNA1SGMQHYNQSEQMNHISDILNVAFTIIFTLEM>I<LKLMAFKARGYFGDPWNVFDFLIVIGSIID1196
SCN10AMVETDDQSEEKTKILGKINQFFVAVFTGEC>V<MKMFALR-QYYFTNGWNVFDFIVVVLSIAS1553
SCN11AMAESYNQPKAMKSILDHLNWVFVVIFTLEC>L<IKIFALR-QYYFTNGWNLFDCVVVLLSIVS1443
SCN1AMVETDDQSEYVTTILSRINLVFIVLFTGEC>V<LKLISLR-HYYFTIGWNIFDFVVVILSIVG1618
SCN2AMVETDDQSQEMTNILYWINLVFIVLFTGEC>V<LKLISLR-YYYFTIGWNIFDFVVVILSIVG1608
SCN3AMVETDDQGKYMTLVLSRINLVFIVLFTGEF>V<LKLVSLR-HYYFTIGWNIFDFVVVILSIVG1603
SCN4AMVETDNQSQLKVDILYNINMIFIIIFTGEC>V<LKMLALR-QYYFTVGWNIFDFVVVILSIVG1430
SCN5AMVETDDQSPEKINILAKINLLFVAIFTGEC>I<VKLAALR-HYYFTNSWNIFDFVVVILSIVG1605
SCN7AMIDTDVQSLQMSIALYWINSIFVMLYTMEC>I<LKLIAFR-CFYFTIAWNIFDFMVVIFSITG1328
SCN8AMVETDTQSKQMENILYWINLVFVIFFTCEC>V<LKMFALR-HYYFTIGWNIFDFVVVILSIVG1599
SCN9AMVEKEGQSQHMTEVLYWINVVFIILFTGEC>V<LKLISLR-HYYFTVGWNIFDFVVVIISIVG1581
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1267 for CACNA1C.