Paralogue Annotation for CACNA1C residue 1274

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1274
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1274

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AR1583HBrugada syndromeMedium9 20129283, 24136861
SCN5AR1583CBrugada syndromeMedium9 20129283, 24136861
SCN1AR1596CCryptogenic focal epilepsyMedium9 17347258, 23527921, 24328833, 26188943
SCN1AR1596LDravet syndromeMedium9 18930999
SCN1AR1596HGeneralized epilepsy with febrile seizures plus ?Medium9 21248271, 26188943

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.



CACNA1CSCLFKIAMNILNMLFTGLFTVEMILKLIAF>K<PKHYFCDAWNTFDALIVVGSIVDIAITEVN1304
CACNA1ASVAYENALRVFNIVFTSLFSLECVLKVMAF>G<ILNYFRDAWNIFDFVTVLGSITDILVTEFG1651
CACNA1BPYEYELMLKCLNIVFTSMFSMECVLKIIAF>G<VLNYFRDAWNVFDFVTVLGSITDILVTEIA1557
CACNA1DSKMFNDAMDILNMVFTGVFTVEMVLKVIAF>K<PKGYFSDAWNTFDSLIVIGSIIDVALSEAD1310
CACNA1EPCTYELALKYLNIAFTMVFSLECVLKVIAF>G<FLNYFRDTWNIFDFITVIGSITEIILTDSK1563
CACNA1FTAPFNYAMDILNMVFTGLFTIEMVLKIIAF>K<PKHYFTDAWNTFDALIVVGSIVDIAVTEVN1275
CACNA1GPQILDEALKICNYIFTVIFVLESVFKLVAF>G<FRRFFQDRWNQLDLAIVLLSIMGITLEEIE1696
CACNA1HPKSLDEALKYCNYVFTIVFVFEAALKLVAF>G<FRRFFKDRWNQLDLAIVLLSLMGITLEEIE1702
CACNA1IPTSLETALKYCNYMFTTVFVLEAVLKLVAF>G<LRRFFKDRWNQLDLAIVLLSVMGITLEEIE1572
CACNA1SSEQMNHISDILNVAFTIIFTLEMILKLMAF>K<ARGYFGDPWNVFDFLIVIGSIIDVILSEID1203
SCN10ASEEKTKILGKINQFFVAVFTGECVMKMFAL>R<-QYYFTNGWNVFDFIVVVLSIASLIFSAIL1560
SCN11APKAMKSILDHLNWVFVVIFTLECLIKIFAL>R<-QYYFTNGWNLFDCVVVLLSIVSTMISTLE1450
SCN1ASEYVTTILSRINLVFIVLFTGECVLKLISL>R<-HYYFTIGWNIFDFVVVILSIVGMFLAELI1625
SCN2ASQEMTNILYWINLVFIVLFTGECVLKLISL>R<-YYYFTIGWNIFDFVVVILSIVGMFLAELI1615
SCN3AGKYMTLVLSRINLVFIVLFTGEFVLKLVSL>R<-HYYFTIGWNIFDFVVVILSIVGMFLAEMI1610
SCN4ASQLKVDILYNINMIFIIIFTGECVLKMLAL>R<-QYYFTVGWNIFDFVVVILSIVGLALSDLI1437
SCN5ASPEKINILAKINLLFVAIFTGECIVKLAAL>R<-HYYFTNSWNIFDFVVVILSIVGTVLSDII1612
SCN7ASLQMSIALYWINSIFVMLYTMECILKLIAF>R<-CFYFTIAWNIFDFMVVIFSITGLCLPMTV1335
SCN8ASKQMENILYWINLVFVIFFTCECVLKMFAL>R<-HYYFTIGWNIFDFVVVILSIVGMFLADII1606
SCN9ASQHMTEVLYWINVVFIILFTGECVLKLISL>R<-HYYFTVGWNIFDFVVVIISIVGMFLADLI1588
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1274 for CACNA1C.