No paralogue variants have been mapped to residue 4959 for RYR2.
| RYR2 | DETEHTGQESYVWKMYQERCWEFFPAGDCF>R<KQYEDQLN | 4967 |
| RYR1 | DETEHTGQESYVWKMYQERCWDFFPAGDCF>R<KQYEDQLS | 5038 |
| RYR3 | DETEHTGQESYVWKMYQERCWDFFPAGDCF>R<KQYEDQLG | 4870 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R4959Q | c.14876G>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: benign | |
| Reports | Inherited Arrhythmia | CPVT | Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms. Eur J Hum Genet. 2003 11(11):888-91. 14571276 | ||
| Inherited Arrhythmia | CPVT | The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015 | |||
| 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 | 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.R4959W | c.14875C>T | Putative Benign | SIFT: Polyphen: | ||