Paralogue Annotation for CACNA1C residue 1496

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1496
Reference Amino Acid: E - Glutamate
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1496

No paralogue variants have been mapped to residue 1496 for CACNA1C.



CACNA1CIINLFVAVIMDNFDYLTRDWSI-LGPHHLD>E<FKRIWAEYDPEAKGRIKHLDVVTLLRRIQP1526
CACNA1AMLNLFVAVIMDNFEYLTRDSSI-LGPHHLD>E<YVRVWAEYDPAACGRIHYKDMYSLLRVISP1861
CACNA1BMLNLFVAVIMDNFEYLTRDSSI-LGPHHLD>E<FIRVWAEYDPAACGRISYNDMFEMLKHMSP1759
CACNA1DIINLFVAVIMDNFDYLTRDWSI-LGPHHLD>E<FKRIWSEYDPEAKGRIKHLDVVTLLRRIQP1534
CACNA1EMLNLFVAVIMDNFEYLTRDSSI-LGPHHLD>E<FVRVWAEYDRAACGRIHYTEMYEMLTLMSP1773
CACNA1FIINLFVAVIMDNFDYLTRDWSI-LGPHHLD>E<FKRIWSEYDPGAKGRIKHLDVVALLRRIQP1491
CACNA1GLVNVVIAVLMKHLEESNKEAKE---EAELE>A<ELELEMKT-LSPQPHSPLGSPF-LWPGVEG1897
CACNA1HLVNVVVAVLMKHLEESNKEARE---DAELD>A<EIELEMAQGPGSARRVDADRP---------1899
CACNA1ILINVVVAVLMKHLDDSNKEAQE---DAEMD>A<ELELEMAHGLGPGPRLPTGSPGAPGR---G1775
CACNA1SVINLFVAVIMDNFDYLTRDWSI-LGPHHLD>E<FKAIWAEYDPEAKGRIKHLDVVTLLRRIQP1431
SCN10AMVNMYIAVILENFNVATEESTEPLSEDDFD>M<FYETWEKFDPEATQFITFSALSDFADTLSG1773
SCN11AVVNMYIAVILENFNTATEESEDPLGEDDFD>I<FYEVWEKFDPEATQFIKYSALSDFADALPE1655
SCN1AVVNMYIAVILENFSVATEESAEPLSEDDFE>M<FYEVWEKFDPDATQFMEFEKLSQFAAALEP1837
SCN2AVVNMYIAVILENFSVATEESAEPLSEDDFE>M<FYEVWEKFDPDATQFIEFAKLSDFADALDP1827
SCN3AVVNMYIAVILENFSVATEESAEPLSEDDFE>M<FYEVWEKFDPDATQFIEFSKLSDFAAALDP1822
SCN4AVVNMYIAIILENFNVATEESSEPLGEDDFE>M<FYETWEKFDPDATQFIAYSRLSDFVDTLQE1649
SCN5AVVNMYIAIILENFSVATEESTEPLSEDDFD>M<FYEIWEKFDPEATQFIEYSVLSDFADALSE1823
SCN7AIVNMYIVVVMEFLNIASKKKNKTLSEDDFR>K<FFQVWKRFDPDRTQYIDSSKLSDFAAALDP1547
SCN8AVVNMYIAIILENFSVATEESADPLSEDDFE>T<FYEIWEKFDPDATQFIEYCKLADFADALEH1817
SCN9AVVNMYIAVILENFSVATEESTEPLSEDDFE>M<FYEVWEKFDPDATQFIEFSKLSDFAAALDP1800
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1496Kc.4486G>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome. J Mol Cell Cardiol. 2015 80:186-95. doi: 10.1016/j.yjmcc.2015.01.002. 25633834