No paralogue variants have been mapped to residue 1496 for CACNA1C.
CACNA1C | IINLFVAVIMDNFDYLTRDWSI-LGPHHLD>E<FKRIWAEYDPEAKGRIKHLDVVTLLRRIQP | 1526 |
CACNA1A | MLNLFVAVIMDNFEYLTRDSSI-LGPHHLD>E<YVRVWAEYDPAACGRIHYKDMYSLLRVISP | 1861 |
CACNA1B | MLNLFVAVIMDNFEYLTRDSSI-LGPHHLD>E<FIRVWAEYDPAACGRISYNDMFEMLKHMSP | 1759 |
CACNA1D | IINLFVAVIMDNFDYLTRDWSI-LGPHHLD>E<FKRIWSEYDPEAKGRIKHLDVVTLLRRIQP | 1534 |
CACNA1E | MLNLFVAVIMDNFEYLTRDSSI-LGPHHLD>E<FVRVWAEYDRAACGRIHYTEMYEMLTLMSP | 1773 |
CACNA1F | IINLFVAVIMDNFDYLTRDWSI-LGPHHLD>E<FKRIWSEYDPGAKGRIKHLDVVALLRRIQP | 1491 |
CACNA1G | LVNVVIAVLMKHLEESNKEAKE---EAELE>A<ELELEMKT-LSPQPHSPLGSPF-LWPGVEG | 1897 |
CACNA1H | LVNVVVAVLMKHLEESNKEARE---DAELD>A<EIELEMAQGPGSARRVDADRP--------- | 1899 |
CACNA1I | LINVVVAVLMKHLDDSNKEAQE---DAEMD>A<ELELEMAHGLGPGPRLPTGSPGAPGR---G | 1775 |
CACNA1S | VINLFVAVIMDNFDYLTRDWSI-LGPHHLD>E<FKAIWAEYDPEAKGRIKHLDVVTLLRRIQP | 1431 |
SCN10A | MVNMYIAVILENFNVATEESTEPLSEDDFD>M<FYETWEKFDPEATQFITFSALSDFADTLSG | 1773 |
SCN11A | VVNMYIAVILENFNTATEESEDPLGEDDFD>I<FYEVWEKFDPEATQFIKYSALSDFADALPE | 1655 |
SCN1A | VVNMYIAVILENFSVATEESAEPLSEDDFE>M<FYEVWEKFDPDATQFMEFEKLSQFAAALEP | 1837 |
SCN2A | VVNMYIAVILENFSVATEESAEPLSEDDFE>M<FYEVWEKFDPDATQFIEFAKLSDFADALDP | 1827 |
SCN3A | VVNMYIAVILENFSVATEESAEPLSEDDFE>M<FYEVWEKFDPDATQFIEFSKLSDFAAALDP | 1822 |
SCN4A | VVNMYIAIILENFNVATEESSEPLGEDDFE>M<FYETWEKFDPDATQFIAYSRLSDFVDTLQE | 1649 |
SCN5A | VVNMYIAIILENFSVATEESTEPLSEDDFD>M<FYEIWEKFDPEATQFIEYSVLSDFADALSE | 1823 |
SCN7A | IVNMYIVVVMEFLNIASKKKNKTLSEDDFR>K<FFQVWKRFDPDRTQYIDSSKLSDFAAALDP | 1547 |
SCN8A | VVNMYIAIILENFSVATEESADPLSEDDFE>T<FYEIWEKFDPDATQFIEYCKLADFADALEH | 1817 |
SCN9A | VVNMYIAVILENFSVATEESTEPLSEDDFE>M<FYEVWEKFDPDATQFIEFSKLSDFAAALDP | 1800 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1496K | c.4486G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | 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 |