No paralogue variants have been mapped to residue 4653 for RYR2.
RYR2 | EDDIKGQWDRLVINTQSFPNNYWDKFVKRK>V<MDKYGEFYGRDRISELLGMDKAALDFSDAR | 4683 |
RYR1 | DDDVKGQWDRLVLNTPSFPSNYWDKFVKRK>V<LDKHGDIYGRERIAELLGMDLATLEITAHN | 4755 |
RYR3 | EDDIKGQWDRLVINTPSFPNNYWDKFVKRK>V<INKYGDLYGAERIAELLGLDKNALDFSPVE | 4588 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4653F | c.13957G>T | Inherited Arrhythmia | CPVT | rs121918604 | SIFT: deleterious Polyphen: benign |
Reports | Inherited Arrhythmia | CPVT | Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation. 2001 103(4):485-90. 11157710 | ||
Inherited Arrhythmia | CPVT | Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak. Circulation. 2004 109(25):3208-14. 15197150 | |||
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 | |||
p.V4653I | c.13957G>A | Putative Benign | rs121918604 | SIFT: deleterious Polyphen: benign |