No paralogue variants have been mapped to residue 4962 for RYR2.
| RYR2 | EHTGQESYVWKMYQERCWEFFPAGDCFRKQ>Y<EDQLN | 4967 |
| RYR1 | EHTGQESYVWKMYQERCWDFFPAGDCFRKQ>Y<EDQLS | 5038 |
| RYR3 | EHTGQESYVWKMYQERCWDFFPAGDCFRKQ>Y<EDQLG | 4870 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y4962C | c.14885A>G | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. Circ Arrhythm Electrophysiol. 2012 5(4):748-56. doi: 10.1161/CIRCEP.112.970517. 22787013 | ||
| 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.Y4962N | c.14884T>A | Putative Benign | SIFT: Polyphen: | ||