Paralogue Annotation for CACNA1C residue 1273

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1273
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1273

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL1582PBrugada syndromeMedium9 19843921

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.



CACNA1CQSCLFKIAMNILNMLFTGLFTVEMILKLIA>F<KPKHYFCDAWNTFDALIVVGSIVDIAITEV1303
CACNA1AASVAYENALRVFNIVFTSLFSLECVLKVMA>F<GILNYFRDAWNIFDFVTVLGSITDILVTEF1650
CACNA1BAPYEYELMLKCLNIVFTSMFSMECVLKIIA>F<GVLNYFRDAWNVFDFVTVLGSITDILVTEI1556
CACNA1DQSKMFNDAMDILNMVFTGVFTVEMVLKVIA>F<KPKGYFSDAWNTFDSLIVIGSIIDVALSEA1309
CACNA1EAPCTYELALKYLNIAFTMVFSLECVLKVIA>F<GFLNYFRDTWNIFDFITVIGSITEIILTDS1562
CACNA1FQTAPFNYAMDILNMVFTGLFTIEMVLKIIA>F<KPKHYFTDAWNTFDALIVVGSIVDIAVTEV1274
CACNA1GQPQILDEALKICNYIFTVIFVLESVFKLVA>F<GFRRFFQDRWNQLDLAIVLLSIMGITLEEI1695
CACNA1HQPKSLDEALKYCNYVFTIVFVFEAALKLVA>F<GFRRFFKDRWNQLDLAIVLLSLMGITLEEI1701
CACNA1IQPTSLETALKYCNYMFTTVFVLEAVLKLVA>F<GLRRFFKDRWNQLDLAIVLLSVMGITLEEI1571
CACNA1SQSEQMNHISDILNVAFTIIFTLEMILKLMA>F<KARGYFGDPWNVFDFLIVIGSIIDVILSEI1202
SCN10AQSEEKTKILGKINQFFVAVFTGECVMKMFA>L<R-QYYFTNGWNVFDFIVVVLSIASLIFSAI1559
SCN11AQPKAMKSILDHLNWVFVVIFTLECLIKIFA>L<R-QYYFTNGWNLFDCVVVLLSIVSTMISTL1449
SCN1AQSEYVTTILSRINLVFIVLFTGECVLKLIS>L<R-HYYFTIGWNIFDFVVVILSIVGMFLAEL1624
SCN2AQSQEMTNILYWINLVFIVLFTGECVLKLIS>L<R-YYYFTIGWNIFDFVVVILSIVGMFLAEL1614
SCN3AQGKYMTLVLSRINLVFIVLFTGEFVLKLVS>L<R-HYYFTIGWNIFDFVVVILSIVGMFLAEM1609
SCN4AQSQLKVDILYNINMIFIIIFTGECVLKMLA>L<R-QYYFTVGWNIFDFVVVILSIVGLALSDL1436
SCN5AQSPEKINILAKINLLFVAIFTGECIVKLAA>L<R-HYYFTNSWNIFDFVVVILSIVGTVLSDI1611
SCN7AQSLQMSIALYWINSIFVMLYTMECILKLIA>F<R-CFYFTIAWNIFDFMVVIFSITGLCLPMT1334
SCN8AQSKQMENILYWINLVFVIFFTCECVLKMFA>L<R-HYYFTIGWNIFDFVVVILSIVGMFLADI1605
SCN9AQSQHMTEVLYWINVVFIILFTGECVLKLIS>L<R-HYYFTVGWNIFDFVVVIISIVGMFLADL1587
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1273 for CACNA1C.