No paralogue variants have been mapped to residue 1906 for CACNA1C.
CACNA1C | RQSPKRGFLRSA-SL-GR-R-ASFHLECLK>R<QKDRGGDIS-----Q--------------- | 1916 |
CACNA1A | DLSMTTQSGDLP------SK-ERDQERGRP>K<DR---------------------------- | 2206 |
CACNA1B | AVGPGLPPGEGPTGC-RRER-ERRQERGRS>Q<ERRQPSSSSS----EKQRFYSCDRFGGREP | 2139 |
CACNA1D | RRSPRRRLLPPT-PASHR-R-SSFNFECLR>R<QSSQEEVPSSPIFPH--------------- | 1965 |
CACNA1E | DT----------------HR-SGGRERGRS>K<ERKHLLSPDV----SRCN--SEER-GTQAD | 2110 |
CACNA1F | HLVPRRRLLPPT-PA-GR-K-PSFTIQCLQ>R<QGSCEDLPIPGTY----------------- | 1823 |
CACNA1G | HSKISKHMTPPA-PCPGP-E-PNWGKGPPE>T<RSSLELDTE--------------------- | 2220 |
CACNA1H | -----------G-PEASP-V-AGGE----->-<------------------------------ | 2129 |
CACNA1I | ----RRALGPPA-PAPGP-R-AGLS----->-<------------------------------ | 2060 |
CACNA1S | PATRGRALGQPCRVL-GP-H-SKPCVEMLK>G<------------------------------ | 1724 |
SCN10A | -------------RG-LSDR-VNMRT---->-<------------------------------ | 1936 |
SCN11A | -------------SF-GVAK---------->-<------------------------------ | 1785 |
SCN1A | -------------KP-IVEK-HE------->-<------------------------------ | 1998 |
SCN2A | -------------KP-EKEK-FE------->-<------------------------------ | 1987 |
SCN3A | -------------KP-DKEK-FE------->-<------------------------------ | 1982 |
SCN4A | -------------IS-PSDTAWP------->-<------------------------------ | 1818 |
SCN5A | -------------RA-TSDN-LQVRG---->-<------------------------------ | 1992 |
SCN7A | -------------------K---------->-<------------------------------ | 1675 |
SCN8A | -------------KP-EKEK-QQRAE---->-<------------------------------ | 1962 |
SCN9A | -------------KP-DKEK-YE------->-<------------------------------ | 1959 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1906Q | c.5717G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet. 2013 6(3):279-89. 23677916 | ||
p.R1906L | c.5717G>T | Putative Benign | SIFT: Polyphen: |