Paralogue Annotation for CACNA1C residue 1261

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1261
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1261

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FL1232RNight blindness, congenital stationary, incompleteHigh9 25307992

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.



CACNA1CLNTICLAMQHYGQSCLFKIAMNILNMLFTG>L<FTVEMILKLIAFKPKHYFCDAWNTFDALIV1291
CACNA1ALNTIVLMMKFYGASVAYENALRVFNIVFTS>L<FSLECVLKVMAFGILNYFRDAWNIFDFVTV1638
CACNA1BLNTVVLMMKFYDAPYEYELMLKCLNIVFTS>M<FSMECVLKIIAFGVLNYFRDAWNVFDFVTV1544
CACNA1DLNTLCLAMQHYEQSKMFNDAMDILNMVFTG>V<FTVEMVLKVIAFKPKGYFSDAWNTFDSLIV1297
CACNA1ELNTVVLMMKYYSAPCTYELALKYLNIAFTM>V<FSLECVLKVIAFGFLNYFRDTWNIFDFITV1550
CACNA1FLNTVALAMQHYEQTAPFNYAMDILNMVFTG>L<FTIEMVLKIIAFKPKHYFTDAWNTFDALIV1262
CACNA1GLNVVTMAMEHYQQPQILDEALKICNYIFTV>I<FVLESVFKLVAFGFRRFFQDRWNQLDLAIV1683
CACNA1HVNVITMSMEHYNQPKSLDEALKYCNYVFTI>V<FVFEAALKLVAFGFRRFFKDRWNQLDLAIV1689
CACNA1ILNVVTMSLEHYNQPTSLETALKYCNYMFTT>V<FVLEAVLKLVAFGLRRFFKDRWNQLDLAIV1559
CACNA1SLNTICLGMQHYNQSEQMNHISDILNVAFTI>I<FTLEMILKLMAFKARGYFGDPWNVFDFLIV1190
SCN10ALNMITMMVETDDQSEEKTKILGKINQFFVA>V<FTGECVMKMFALR-QYYFTNGWNVFDFIVV1547
SCN11ALNMISMMAESYNQPKAMKSILDHLNWVFVV>I<FTLECLIKIFALR-QYYFTNGWNLFDCVVV1437
SCN1ALNMVTMMVETDDQSEYVTTILSRINLVFIV>L<FTGECVLKLISLR-HYYFTIGWNIFDFVVV1612
SCN2ALNMVTMMVETDDQSQEMTNILYWINLVFIV>L<FTGECVLKLISLR-YYYFTIGWNIFDFVVV1602
SCN3ALNMVTMMVETDDQGKYMTLVLSRINLVFIV>L<FTGEFVLKLVSLR-HYYFTIGWNIFDFVVV1597
SCN4ALNMVTMMVETDNQSQLKVDILYNINMIFII>I<FTGECVLKMLALR-QYYFTVGWNIFDFVVV1424
SCN5ALNMVTMMVETDDQSPEKINILAKINLLFVA>I<FTGECIVKLAALR-HYYFTNSWNIFDFVVV1599
SCN7AFQAIAMMIDTDVQSLQMSIALYWINSIFVM>L<YTMECILKLIAFR-CFYFTIAWNIFDFMVV1322
SCN8ALNMVTMMVETDTQSKQMENILYWINLVFVI>F<FTCECVLKMFALR-HYYFTIGWNIFDFVVV1593
SCN9ALNMVTMMVEKEGQSQHMTEVLYWINVVFII>L<FTGECVLKLISLR-HYYFTVGWNIFDFVVV1575
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1261 for CACNA1C.