Paralogue Annotation for CACNA1C residue 1270

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1270
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1270

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1592HDravet syndrome B ?High9 21248271
SCN1AL1592PDravet syndrome C ?High9 21248271

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.



CACNA1CHYGQSCLFKIAMNILNMLFTGLFTVEMILK>L<IAFKPKHYFCDAWNTFDALIVVGSIVDIAI1300
CACNA1AFYGASVAYENALRVFNIVFTSLFSLECVLK>V<MAFGILNYFRDAWNIFDFVTVLGSITDILV1647
CACNA1BFYDAPYEYELMLKCLNIVFTSMFSMECVLK>I<IAFGVLNYFRDAWNVFDFVTVLGSITDILV1553
CACNA1DHYEQSKMFNDAMDILNMVFTGVFTVEMVLK>V<IAFKPKGYFSDAWNTFDSLIVIGSIIDVAL1306
CACNA1EYYSAPCTYELALKYLNIAFTMVFSLECVLK>V<IAFGFLNYFRDTWNIFDFITVIGSITEIIL1559
CACNA1FHYEQTAPFNYAMDILNMVFTGLFTIEMVLK>I<IAFKPKHYFTDAWNTFDALIVVGSIVDIAV1271
CACNA1GHYQQPQILDEALKICNYIFTVIFVLESVFK>L<VAFGFRRFFQDRWNQLDLAIVLLSIMGITL1692
CACNA1HHYNQPKSLDEALKYCNYVFTIVFVFEAALK>L<VAFGFRRFFKDRWNQLDLAIVLLSLMGITL1698
CACNA1IHYNQPTSLETALKYCNYMFTTVFVLEAVLK>L<VAFGLRRFFKDRWNQLDLAIVLLSVMGITL1568
CACNA1SHYNQSEQMNHISDILNVAFTIIFTLEMILK>L<MAFKARGYFGDPWNVFDFLIVIGSIIDVIL1199
SCN10ATDDQSEEKTKILGKINQFFVAVFTGECVMK>M<FALR-QYYFTNGWNVFDFIVVVLSIASLIF1556
SCN11ASYNQPKAMKSILDHLNWVFVVIFTLECLIK>I<FALR-QYYFTNGWNLFDCVVVLLSIVSTMI1446
SCN1ATDDQSEYVTTILSRINLVFIVLFTGECVLK>L<ISLR-HYYFTIGWNIFDFVVVILSIVGMFL1621
SCN2ATDDQSQEMTNILYWINLVFIVLFTGECVLK>L<ISLR-YYYFTIGWNIFDFVVVILSIVGMFL1611
SCN3ATDDQGKYMTLVLSRINLVFIVLFTGEFVLK>L<VSLR-HYYFTIGWNIFDFVVVILSIVGMFL1606
SCN4ATDNQSQLKVDILYNINMIFIIIFTGECVLK>M<LALR-QYYFTVGWNIFDFVVVILSIVGLAL1433
SCN5ATDDQSPEKINILAKINLLFVAIFTGECIVK>L<AALR-HYYFTNSWNIFDFVVVILSIVGTVL1608
SCN7ATDVQSLQMSIALYWINSIFVMLYTMECILK>L<IAFR-CFYFTIAWNIFDFMVVIFSITGLCL1331
SCN8ATDTQSKQMENILYWINLVFVIFFTCECVLK>M<FALR-HYYFTIGWNIFDFVVVILSIVGMFL1602
SCN9AKEGQSQHMTEVLYWINVVFIILFTGECVLK>L<ISLR-HYYFTVGWNIFDFVVVIISIVGMFL1584
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1270 for CACNA1C.