No paralogue variants have been mapped to residue 4153 for RYR2.
| RYR2 | ESVLNYFQPFLGRIEIMGSAKRIERVYFEI>S<ESSRTQWEKPQVKESKRQFIFDVVNEGGEK | 4183 |
| RYR1 | ESILEYFRPYLGRIEIMGASRRIERIYFEI>S<ETNRAQWEMPQVKESKRQFIFDVVNEGGEA | 4227 |
| RYR3 | ESVLNYFEPYLGRIEIMGGAKKIERVYFEI>S<ESSRTQWEKPQVKESKRQFIFDVVNEGGEQ | 4079 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S4153R | c.12457A>C | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | A Novel Mutation in the RYR2 Gene Leading to Catecholaminergic Polymorphic Ventricular Tachycardia and Paroxysmal Atrial Fibrillation: Dose-Dependent Arrhythmia-Event Suppression by β-Blocker Therapy. Can J Cardiol. 2011 21652165 | ||
| Inherited Arrhythmia | CPVT | How much is enough? Weighing the evidence for mutation pathogenicity. Can J Cardiol. 2012 author reply 119.e9-10. 22119419 | |||
| Inherited Arrhythmia | CPVT | S4153R Is a Gain-of-Function Mutation in the Cardiac Ca2+ Release Channel Ryanodine Receptor Associated With Catecholaminergic Polymorphic Ventricular Tachycardia and Paroxysmal Atrial Fibrillation. Can J Cardiol. 2013 23498838 | |||
| 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.S4153I | c.12458G>T | Inherited Arrhythmia | CPVT | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | CPVT | Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS One. 2015 10(6):e0131517. doi: 10.1371/journal.pone.0131517. 26114861 | ||