No paralogue variants have been mapped to residue 413 for RYR2.
RYR2 | RMGSIQRKAIMHHEGHMDDGISLSRSQHEE>S<RTARVIRSTVFLFNRFIRGLDALSKKAKA- | 442 |
RYR1 | RLGVLKKKAMLHQEGHMDDALSLTRCQQEE>S<QAARMIHSTNGLYNQFIKSLDSFSGKPRGS | 427 |
RYR3 | RLGPLKRKVILHQEGHMDDGLTLQRCQREE>S<QAARIIRNTTALFSQFVSGN-----NRTA- | 429 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S413T | c.1237T>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | CPVT | Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009 119(18):2426-34. 19398665 | ||
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.S413P | c.1237T>C | Putative Benign | SIFT: Polyphen: | ||
p.Ser413Leu | c.1238C>T | Unknown | SIFT: Polyphen: |