Paralogue Annotation for CACNA1C residue 1461

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1461
Reference Amino Acid: M - Methionine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1461

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1771NDravet syndromeMedium9 18930999
SCN1AI1771FCryptogenic focal epilepsyMedium9 18330841, 23195492

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.



CACNA1CSEP-SNSTEGETP--CGS-SFAVFYFISFY>M<LCAFLIINLFVAVIMDNFDYLTRDWSI-LG1490
CACNA1ASGIL-----T-R--ECGN-EFAYFYFVSFI>F<LCSFLMLNLFVAVIMDNFEYLTRDSSI-LG1825
CACNA1B--Q------A-NATECGS-DFAYFYFVSFI>F<LCSFLMLNLFVAVIMDNFEYLTRDSSI-LG1723
CACNA1DSDY--NPGE-EYT--CGS-NFAIVYFISFY>M<LCAFLIINLFVAVIMDNFDYLTRDWSI-LG1498
CACNA1ETTAPSGQNEN-E--RCGT-DLAYVYFVSFI>F<FCSFLMLNLFVAVIMDNFEYLTRDSSI-LG1737
CACNA1FSDF--GPGE-EFT--CGS-NFAIAYFISFF>M<LCAFLIINLFVAVIMDNFDYLTRDWSI-LG1455
CACNA1GST-----C-------YNT-VISPIYFVSFV>L<TAQFVLVNVVIAVLMKHLEESNKEAKE---1863
CACNA1HDKH----C---LS--YLP-ALSPVYFVTFV>L<VAQFVLVNVVVAVLMKHLEESNKEARE---1872
CACNA1IERS----C---LS--SLQ-FVSPLYFVSFV>L<TAQFVLINVVVAVLMKHLDDSNKEAQE---1742
CACNA1SSDY--APGE-EYT--CGT-NFAYYYFISFY>M<LCAFLVINLFVAVIMDNFDYLTRDWSI-LG1395
SCN10ALPN-S-NGTRGD---CGSPAVGIIFFTTYI>I<ISFLIMVNMYIAVILENFNVATEESTEPLS1737
SCN11A-------SSSEN---CHLPGIATSYFVSYI>I<ISFLIVVNMYIAVILENFNTATEESEDPLG1619
SCN1AKVN-PGSSVKGD---CGNPSVGIFFFVSYI>I<ISFLVVVNMYIAVILENFSVATEESAEPLS1801
SCN2AKDH-PGSSVKGD---CGNPSVGIFFFVSYI>I<ISFLVVVNMYIAVILENFSVATEESAEPLS1791
SCN3ATIH-PGSSVKGD---CGNPSVGIFFFVSYI>I<ISFLVVVNMYIAVILENFSVATEESAEPLS1786
SCN4ALEN-PGTSVKGD---CGNPSIGICFFCSYI>I<ISFLIVVNMYIAIILENFNVATEESSEPLG1613
SCN5ALPN-S-NGSRGD---CGSPAVGILFFTTYI>I<ISFLIVVNMYIAIILENFSVATEESTEPLS1787
SCN7AKIN-PGTQVRGD---CGNPSVGIFYFVSYI>L<ISWLIIVNMYIVVVMEFLNIASKKKNKTLS1511
SCN8AKEH-PGSGFKGD---CGNPSVGIFFFVSYI>I<ISFLIVVNMYIAIILENFSVATEESADPLS1781
SCN9AKVH-PGSSVEGD---CGNPSVGIFYFVSYI>I<ISFLVVVNMYIAVILENFSVATEESTEPLS1764
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M1461Vc.4381A>G Putative Benignrs200206894SIFT: tolerated
Polyphen: possibly damaging