No paralogue variants have been mapped to residue 1911 for CACNA1C.
CACNA1C | RGFLRSA-SL-GR-R-ASFHLECLKRQKDR>G<GDIS-----Q----------------KTVL | 1920 |
CACNA1A | TQSGDLP------SK-ERDQERGRPKDR-->-<--------------------------K--- | 2207 |
CACNA1B | LPPGEGPTGC-RRER-ERRQERGRSQERRQ>P<SSSSS----EKQRFYSCDRFGGREPPKPK- | 2143 |
CACNA1D | RRLLPPT-PASHR-R-SSFNFECLRRQSSQ>E<EVPSSPIFPH----------------RTAL | 1969 |
CACNA1E | -------------HR-SGGRERGRSKERKH>L<LSPDV----SRCN--SEER-GTQADW-ES- | 2113 |
CACNA1F | RRLLPPT-PA-GR-K-PSFTIQCLQRQGSC>E<DLPIPGTY---------------------- | 1823 |
CACNA1G | KHMTPPA-PCPGP-E-PNWGKGPPETRSSL>E<LDTE-------------------------- | 2220 |
CACNA1H | ------G-PEASP-V-AGGE---------->-<------------------------------ | 2129 |
CACNA1I | RALGPPA-PAPGP-R-AGLS---------->-<------------------------------ | 2060 |
CACNA1S | RALGQPCRVL-GP-H-SKPCVEMLKG---->-<------------------------------ | 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.G1911R | c.5731G>C | Inherited Arrhythmia | rs374528680 | SIFT: tolerated Polyphen: benign | |
Reports | Other Cardiac Phenotype | A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis. PLoS One. 2014 9(9):e106982. doi: 10.1371/journal.pone.0106982. e 25184293 | |||
Inherited Arrhythmia | BrS | Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PLoS One. 2015 10(7):e0133037. doi: 10.1371/journal.pone.0133037. 26230511 | |||
p.G1911E | c.5732G>A | Putative Benign | SIFT: Polyphen: |