Paralogue Annotation for CACNA1C residue 1276

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1276
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1276

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AH1597RGeneralized epilepsy with febrile seizures plusMedium8 22944210

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.



CACNA1CLFKIAMNILNMLFTGLFTVEMILKLIAFKP>K<HYFCDAWNTFDALIVVGSIVDIAITEVNPA1306
CACNA1AAYENALRVFNIVFTSLFSLECVLKVMAFGI>L<NYFRDAWNIFDFVTVLGSITDILVTEFGNN1653
CACNA1BEYELMLKCLNIVFTSMFSMECVLKIIAFGV>L<NYFRDAWNVFDFVTVLGSITDILVTEIAET1559
CACNA1DMFNDAMDILNMVFTGVFTVEMVLKVIAFKP>K<GYFSDAWNTFDSLIVIGSIIDVALSEADPT1312
CACNA1ETYELALKYLNIAFTMVFSLECVLKVIAFGF>L<NYFRDTWNIFDFITVIGSITEIILTDSKLV1565
CACNA1FPFNYAMDILNMVFTGLFTIEMVLKIIAFKP>K<HYFTDAWNTFDALIVVGSIVDIAVTEVNNG1277
CACNA1GILDEALKICNYIFTVIFVLESVFKLVAFGF>R<RFFQDRWNQLDLAIVLLSIMGITLEEIEVN1698
CACNA1HSLDEALKYCNYVFTIVFVFEAALKLVAFGF>R<RFFKDRWNQLDLAIVLLSLMGITLEEIEMS1704
CACNA1ISLETALKYCNYMFTTVFVLEAVLKLVAFGL>R<RFFKDRWNQLDLAIVLLSVMGITLEEIEIN1574
CACNA1SQMNHISDILNVAFTIIFTLEMILKLMAFKA>R<GYFGDPWNVFDFLIVIGSIIDVILSEIDTF1205
SCN10AEKTKILGKINQFFVAVFTGECVMKMFALR->Q<YYFTNGWNVFDFIVVVLSIASLIFSAILKS1562
SCN11AAMKSILDHLNWVFVVIFTLECLIKIFALR->Q<YYFTNGWNLFDCVVVLLSIVSTMISTLENQ1452
SCN1AYVTTILSRINLVFIVLFTGECVLKLISLR->H<YYFTIGWNIFDFVVVILSIVGMFLAELIE-1626
SCN2AEMTNILYWINLVFIVLFTGECVLKLISLR->Y<YYFTIGWNIFDFVVVILSIVGMFLAELIE-1616
SCN3AYMTLVLSRINLVFIVLFTGEFVLKLVSLR->H<YYFTIGWNIFDFVVVILSIVGMFLAEMIE-1611
SCN4ALKVDILYNINMIFIIIFTGECVLKMLALR->Q<YYFTVGWNIFDFVVVILSIVGLALSDLIQ-1438
SCN5AEKINILAKINLLFVAIFTGECIVKLAALR->H<YYFTNSWNIFDFVVVILSIVGTVLSDIIQ-1613
SCN7AQMSIALYWINSIFVMLYTMECILKLIAFR->C<FYFTIAWNIFDFMVVIFSITGLCLPMTVG-1336
SCN8AQMENILYWINLVFVIFFTCECVLKMFALR->H<YYFTIGWNIFDFVVVILSIVGMFLADIIE-1607
SCN9AHMTEVLYWINVVFIILFTGECVLKLISLR->H<YYFTVGWNIFDFVVVIISIVGMFLADLIE-1589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1276 for CACNA1C.