No paralogue variants have been mapped to residue 4504 for RYR2.
| RYR2 | EVPESAFWKKIIAYQQKLLNYFARNFYNMR>M<LALFVAFAINFILLFYKVSTSSVVEGKE-- | 4532 |
| RYR1 | EEAGGEFWGELEVQRVKFLNYLSRNFYTLR>F<LALFLAFAINFILLFYKVSDSPPGEDDMEG | 4595 |
| RYR3 | EAFTANFFKGLEIYQTKLLHYLARNFYNLR>F<LALFVAFAINFILLFYKVTEEPLEEETE-- | 4443 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M4504I | c.13512G>A | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: benign | |
| Reports | Inherited Arrhythmia | CPVT | Follow-up with exercise test of effort-induced ventricular arrhythmias linked to ryanodine receptor type 2 gene mutations. Am J Cardiol. 2012 109(7):1015-9. 22221940 | ||
| Inherited Arrhythmia | CPVT | Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias. Clin Chem. 2004 50(7):1148-55. 15131021 | |||
| 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 | |||