Paralogue Annotation for CACNA1C residue 1266

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1266
Reference Amino Acid: M - Methionine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1266

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AC1588RMyoclonic epilepsy of infancyMedium9 17561957
SCN10AC1523YAtrial fibrillationMedium9 25691686, 25691538

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.



CACNA1CLAMQHYGQSCLFKIAMNILNMLFTGLFTVE>M<ILKLIAFKPKHYFCDAWNTFDALIVVGSIV1296
CACNA1ALMMKFYGASVAYENALRVFNIVFTSLFSLE>C<VLKVMAFGILNYFRDAWNIFDFVTVLGSIT1643
CACNA1BLMMKFYDAPYEYELMLKCLNIVFTSMFSME>C<VLKIIAFGVLNYFRDAWNVFDFVTVLGSIT1549
CACNA1DLAMQHYEQSKMFNDAMDILNMVFTGVFTVE>M<VLKVIAFKPKGYFSDAWNTFDSLIVIGSII1302
CACNA1ELMMKYYSAPCTYELALKYLNIAFTMVFSLE>C<VLKVIAFGFLNYFRDTWNIFDFITVIGSIT1555
CACNA1FLAMQHYEQTAPFNYAMDILNMVFTGLFTIE>M<VLKIIAFKPKHYFTDAWNTFDALIVVGSIV1267
CACNA1GMAMEHYQQPQILDEALKICNYIFTVIFVLE>S<VFKLVAFGFRRFFQDRWNQLDLAIVLLSIM1688
CACNA1HMSMEHYNQPKSLDEALKYCNYVFTIVFVFE>A<ALKLVAFGFRRFFKDRWNQLDLAIVLLSLM1694
CACNA1IMSLEHYNQPTSLETALKYCNYMFTTVFVLE>A<VLKLVAFGLRRFFKDRWNQLDLAIVLLSVM1564
CACNA1SLGMQHYNQSEQMNHISDILNVAFTIIFTLE>M<ILKLMAFKARGYFGDPWNVFDFLIVIGSII1195
SCN10AMMVETDDQSEEKTKILGKINQFFVAVFTGE>C<VMKMFALR-QYYFTNGWNVFDFIVVVLSIA1552
SCN11AMMAESYNQPKAMKSILDHLNWVFVVIFTLE>C<LIKIFALR-QYYFTNGWNLFDCVVVLLSIV1442
SCN1AMMVETDDQSEYVTTILSRINLVFIVLFTGE>C<VLKLISLR-HYYFTIGWNIFDFVVVILSIV1617
SCN2AMMVETDDQSQEMTNILYWINLVFIVLFTGE>C<VLKLISLR-YYYFTIGWNIFDFVVVILSIV1607
SCN3AMMVETDDQGKYMTLVLSRINLVFIVLFTGE>F<VLKLVSLR-HYYFTIGWNIFDFVVVILSIV1602
SCN4AMMVETDNQSQLKVDILYNINMIFIIIFTGE>C<VLKMLALR-QYYFTVGWNIFDFVVVILSIV1429
SCN5AMMVETDDQSPEKINILAKINLLFVAIFTGE>C<IVKLAALR-HYYFTNSWNIFDFVVVILSIV1604
SCN7AMMIDTDVQSLQMSIALYWINSIFVMLYTME>C<ILKLIAFR-CFYFTIAWNIFDFMVVIFSIT1327
SCN8AMMVETDTQSKQMENILYWINLVFVIFFTCE>C<VLKMFALR-HYYFTIGWNIFDFVVVILSIV1598
SCN9AMMVEKEGQSQHMTEVLYWINVVFIILFTGE>C<VLKLISLR-HYYFTVGWNIFDFVVVIISIV1580
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1266 for CACNA1C.