No paralogue variants have been mapped to residue 1916 for CACNA1C.
CACNA1C | -GR-R-ASFHLECLKRQKDRGGDIS----->Q<----------------KTVLPLHLVHHQAL | 1930 |
CACNA1A | ---SK-ERDQERGRPKDR------------>-<----------------K-----------HR | 2209 |
CACNA1B | -RRER-ERRQERGRSQERRQPSSSSS---->E<KQRFYSCDRFGGREPPKPK--PSLSSHPTS | 2152 |
CACNA1D | SHR-R-SSFNFECLRRQSSQEEVPSSPIFP>H<----------------RTALPLHLMQQQIM | 1979 |
CACNA1E | ---HR-SGGRERGRSKERKHLLSPDV---->S<RCN--SEER-GTQADW-ES--PE-RRQSRS | 2121 |
CACNA1F | -GR-K-PSFTIQCLQRQGSCEDLPIPGTY->-<------------------------------ | 1823 |
CACNA1G | PGP-E-PNWGKGPPETRSSLELDTE----->-<------------------------------ | 2220 |
CACNA1H | ASP-V-AGGE-------------------->-<------------------------------ | 2129 |
CACNA1I | PGP-R-AGLS-------------------->-<------------------------------ | 2060 |
CACNA1S | -GP-H-SKPCVEMLKG-------------->-<-----------------------------L | 1725 |
SCN10A | -LSDR-VNMRT------------------->-<------------------------------ | 1936 |
SCN11A | -GVAK------------------------->-<------------------------------ | 1785 |
SCN1A | -IVEK-HE---------------------->-<------------------------------ | 1998 |
SCN2A | -EKEK-FE---------------------->-<------------------------------ | 1987 |
SCN3A | -DKEK-FE---------------------->-<------------------------------ | 1982 |
SCN4A | -PSDTAWP---------------------->-<------------------------------ | 1818 |
SCN5A | -TSDN-LQVRG------------------->-<------------------------------ | 1992 |
SCN7A | ----K------------------------->-<------------------------------ | 1675 |
SCN8A | -EKEK-QQRAE------------------->-<------------------------------ | 1962 |
SCN9A | -DKEK-YE---------------------->-<------------------------------ | 1959 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1916R | c.5747A>G | Other Cardiac Phenotype | rs186867242 | SIFT: deleterious Polyphen: benign | |
Reports | Other Cardiac Phenotype | Postmortem genetic analysis of sudden unexplained death syndrome under 50 years of age: A next-generation sequencing study. Heart Rhythm. 2016 13(7):1544-51. doi: 10.1016/j.hrthm.2016.03.038. 27005929 |