No paralogue variants have been mapped to residue 2337 for RYR2.
RYR2 | FCNGESVEENANVVVRLLIRRPECFGPALR>G<EGGNGLLAAMEEAIKIAEDPSRDGPSPNS- | 2366 |
RYR1 | FVNGESVEENANVVVRLLIRKPECFGPALR>G<EGGSGLLAAIEEAIRISEDPARDGPGIRRD | 2400 |
RYR3 | FVNSESVEENASVVVKLLIRRPECFGPALR>G<EGGNGLLAAMQGAIKISENPALDLPSQGY- | 2263 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2337V | c.7010G>T | Inherited Arrhythmia | CPVT | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | CPVT | High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening. Europace. 2010 12(3):417-23. doi: 10.1093/europace/eup448. 20106799 | ||
Inherited Arrhythmia | CPVT | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405 |