Paralogue Annotation for CACNA1C residue 1473

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1473
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1473

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1783TMyoclonic epilepsy of infancyHigh9 17347258, 21703448, 23808377
SCN1AA1783VMyoclonic epilepsy of infancyHigh9 17561957, 21703448
SCN9AA1746GErythromelalgiaHigh9 23292638

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.



CACNA1CP--CGS-SFAVFYFISFYMLCAFLIINLFV>A<VIMDNFDYLTRDWSI-LGPHHLDEFKRIWA1502
CACNA1A--ECGN-EFAYFYFVSFIFLCSFLMLNLFV>A<VIMDNFEYLTRDSSI-LGPHHLDEYVRVWA1837
CACNA1BATECGS-DFAYFYFVSFIFLCSFLMLNLFV>A<VIMDNFEYLTRDSSI-LGPHHLDEFIRVWA1735
CACNA1DT--CGS-NFAIVYFISFYMLCAFLIINLFV>A<VIMDNFDYLTRDWSI-LGPHHLDEFKRIWS1510
CACNA1E--RCGT-DLAYVYFVSFIFFCSFLMLNLFV>A<VIMDNFEYLTRDSSI-LGPHHLDEFVRVWA1749
CACNA1FT--CGS-NFAIAYFISFFMLCAFLIINLFV>A<VIMDNFDYLTRDWSI-LGPHHLDEFKRIWS1467
CACNA1G---YNT-VISPIYFVSFVLTAQFVLVNVVI>A<VLMKHLEESNKEAKE---EAELEAELELEM1875
CACNA1HS--YLP-ALSPVYFVTFVLVAQFVLVNVVV>A<VLMKHLEESNKEARE---DAELDAEIELEM1884
CACNA1IS--SLQ-FVSPLYFVSFVLTAQFVLINVVV>A<VLMKHLDDSNKEAQE---DAEMDAELELEM1754
CACNA1ST--CGT-NFAYYYFISFYMLCAFLVINLFV>A<VIMDNFDYLTRDWSI-LGPHHLDEFKAIWA1407
SCN10A---CGSPAVGIIFFTTYIIISFLIMVNMYI>A<VILENFNVATEESTEPLSEDDFDMFYETWE1749
SCN11A---CHLPGIATSYFVSYIIISFLIVVNMYI>A<VILENFNTATEESEDPLGEDDFDIFYEVWE1631
SCN1A---CGNPSVGIFFFVSYIIISFLVVVNMYI>A<VILENFSVATEESAEPLSEDDFEMFYEVWE1813
SCN2A---CGNPSVGIFFFVSYIIISFLVVVNMYI>A<VILENFSVATEESAEPLSEDDFEMFYEVWE1803
SCN3A---CGNPSVGIFFFVSYIIISFLVVVNMYI>A<VILENFSVATEESAEPLSEDDFEMFYEVWE1798
SCN4A---CGNPSIGICFFCSYIIISFLIVVNMYI>A<IILENFNVATEESSEPLGEDDFEMFYETWE1625
SCN5A---CGSPAVGILFFTTYIIISFLIVVNMYI>A<IILENFSVATEESTEPLSEDDFDMFYEIWE1799
SCN7A---CGNPSVGIFYFVSYILISWLIIVNMYI>V<VVMEFLNIASKKKNKTLSEDDFRKFFQVWK1523
SCN8A---CGNPSVGIFFFVSYIIISFLIVVNMYI>A<IILENFSVATEESADPLSEDDFETFYEIWE1793
SCN9A---CGNPSVGIFYFVSYIIISFLVVVNMYI>A<VILENFSVATEESTEPLSEDDFEMFYEVWE1776
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1473Gc.4418C>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome. Am J Med Genet A. 2011 22106044