Paralogue Annotation for CACNA1C residue 1468

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1468
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1468

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV1764FBrugada syndromeMedium9 19808440, 20129283

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.



CACNA1CTEGETP--CGS-SFAVFYFISFYMLCAFLI>I<NLFVAVIMDNFDYLTRDWSI-LGPHHLDEF1497
CACNA1A--T-R--ECGN-EFAYFYFVSFIFLCSFLM>L<NLFVAVIMDNFEYLTRDSSI-LGPHHLDEY1832
CACNA1B--A-NATECGS-DFAYFYFVSFIFLCSFLM>L<NLFVAVIMDNFEYLTRDSSI-LGPHHLDEF1730
CACNA1DGE-EYT--CGS-NFAIVYFISFYMLCAFLI>I<NLFVAVIMDNFDYLTRDWSI-LGPHHLDEF1505
CACNA1ENEN-E--RCGT-DLAYVYFVSFIFFCSFLM>L<NLFVAVIMDNFEYLTRDSSI-LGPHHLDEF1744
CACNA1FGE-EFT--CGS-NFAIAYFISFFMLCAFLI>I<NLFVAVIMDNFDYLTRDWSI-LGPHHLDEF1462
CACNA1GC-------YNT-VISPIYFVSFVLTAQFVL>V<NVVIAVLMKHLEESNKEAKE---EAELEAE1870
CACNA1HC---LS--YLP-ALSPVYFVTFVLVAQFVL>V<NVVVAVLMKHLEESNKEARE---DAELDAE1879
CACNA1IC---LS--SLQ-FVSPLYFVSFVLTAQFVL>I<NVVVAVLMKHLDDSNKEAQE---DAEMDAE1749
CACNA1SGE-EYT--CGT-NFAYYYFISFYMLCAFLV>I<NLFVAVIMDNFDYLTRDWSI-LGPHHLDEF1402
SCN10AGTRGD---CGSPAVGIIFFTTYIIISFLIM>V<NMYIAVILENFNVATEESTEPLSEDDFDMF1744
SCN11ASSSEN---CHLPGIATSYFVSYIIISFLIV>V<NMYIAVILENFNTATEESEDPLGEDDFDIF1626
SCN1ASVKGD---CGNPSVGIFFFVSYIIISFLVV>V<NMYIAVILENFSVATEESAEPLSEDDFEMF1808
SCN2ASVKGD---CGNPSVGIFFFVSYIIISFLVV>V<NMYIAVILENFSVATEESAEPLSEDDFEMF1798
SCN3ASVKGD---CGNPSVGIFFFVSYIIISFLVV>V<NMYIAVILENFSVATEESAEPLSEDDFEMF1793
SCN4ASVKGD---CGNPSIGICFFCSYIIISFLIV>V<NMYIAIILENFNVATEESSEPLGEDDFEMF1620
SCN5AGSRGD---CGSPAVGILFFTTYIIISFLIV>V<NMYIAIILENFSVATEESTEPLSEDDFDMF1794
SCN7AQVRGD---CGNPSVGIFYFVSYILISWLII>V<NMYIVVVMEFLNIASKKKNKTLSEDDFRKF1518
SCN8AGFKGD---CGNPSVGIFFFVSYIIISFLIV>V<NMYIAIILENFSVATEESADPLSEDDFETF1788
SCN9ASVEGD---CGNPSVGIFYFVSYIIISFLVV>V<NMYIAVILENFSVATEESTEPLSEDDFEMF1771
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1468 for CACNA1C.