Paralogue Annotation for CACNA1C residue 1439

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1439
Reference Amino Acid: N - Asparagine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1439

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG1749EMyoclonic epilepsy of infancyLow3 12754708, 15263074, 23086956

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.



CACNA1CCATGEAWQDIMLACMPG--KKCAPESEP-S>N<STEGETP--CGS-SFAVFYFISFYMLCAFL1466
CACNA1ASATGEAWHNIMLSCLSG--KPCDKNSGIL->-<---T-R--ECGN-EFAYFYFVSFIFLCSFL1801
CACNA1BSATGEAWHEIMLSCLSN--QACDE---Q-->-<---A-NATECGS-DFAYFYFVSFIFLCSFL1699
CACNA1DCATGEAWQEIMLACLPG--KLCDPESDY-->N<PGE-EYT--CGS-NFAIVYFISFYMLCAFL1474
CACNA1ESATGEAWQEIMLSCLGE--KGCEPDTTAPS>G<QNEN-E--RCGT-DLAYVYFVSFIFFCSFL1713
CACNA1FCATGEAWQEIMLASLPG--NRCDPESDF-->G<PGE-EFT--CGS-NFAIAYFISFFMLCAFL1431
CACNA1GVSTGDNWNGIMKDTLRD----CDQEST--->-<-C-------YNT-VISPIYFVSFVLTAQFV1841
CACNA1HVSTGDNWNGIMKDTLRE----CSREDKH-->-<-C---LS--YLP-ALSPVYFVTFVLVAQFV1850
CACNA1IVSTGDNWNGIMKDTLRD----CTHDERS-->-<-C---LS--SLQ-FVSPLYFVSFVLTAQFV1720
CACNA1SCATGEAWQEILLACSYG--KLCDPESDY-->A<PGE-EYT--CGT-NFAYYYFISFYMLCAFL1371
SCN10AITTSAGWDGLLSPILNTGPPYCDPNLPN-S>-<NGTRGD---CGSPAVGIIFFTTYIIISFLI1712
SCN11AISTSAGWDSLLSPMLRSKES-CN------->-<-SSSEN---CHLPGIATSYFVSYIIISFLI1594
SCN1AITTSAGWDGLLAPILNSKPPDCDPNKVN-P>G<SSVKGD---CGNPSVGIFFFVSYIIISFLV1776
SCN2AITTSAGWDGLLAPILNSGPPDCDPDKDH-P>G<SSVKGD---CGNPSVGIFFFVSYIIISFLV1766
SCN3AITTSAGWDGLLAPILNSAPPDCDPDTIH-P>G<SSVKGD---CGNPSVGIFFFVSYIIISFLV1761
SCN4AITTSAGWDGLLNPILNSGPPDCDPNLEN-P>G<TSVKGD---CGNPSIGICFFCSYIIISFLI1588
SCN5AITTSAGWDGLLSPILNTGPPYCDPTLPN-S>-<NGSRGD---CGSPAVGILFFTTYIIISFLI1762
SCN7AVAIFAGWDGMLDAIFNSKWSDCDPDKIN-P>G<TQVRGD---CGNPSVGIFYFVSYILISWLI1486
SCN8AITTSAGWDGLLLPILN-RPPDCSLDKEH-P>G<SGFKGD---CGNPSVGIFFFVSYIIISFLI1756
SCN9AITTSAGWDGLLAPILNSKPPDCDPKKVH-P>G<SSVEGD---CGNPSVGIFYFVSYIIISFLV1739
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1439 for CACNA1C.