No paralogue variants have been mapped to residue 415 for RYR2.
| RYR2 | GSIQRKAIMHHEGHMDDGISLSRSQHEESR>T<ARVIRSTVFLFNRFIRGLDALSKKAKA--- | 442 |
| RYR1 | GVLKKKAMLHQEGHMDDALSLTRCQQEESQ>A<ARMIHSTNGLYNQFIKSLDSFSGKPRGSGP | 429 |
| RYR3 | GPLKRKVILHQEGHMDDGLTLQRCQREESQ>A<ARIIRNTTALFSQFVSGN-----NRTA--- | 429 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T415R | c.1244C>G | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: benign | |
| Reports | 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 | The cardiac ryanodine receptor N-terminal region contains an anion binding site that is targeted by disease mutations. Structure. 2013 21(8):1440-9. doi: 10.1016/j.str.2013.06.012. 23871484 | |||
| 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.T415I | c.1244C>T | Inherited Arrhythmia | CPVT | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | CPVT | Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches. J Cardiovasc Transl Res. 2013 6(1):94-103. doi: 10.1007/s12265-012-9401-8. 22956155 | ||
| Inherited Arrhythmia | CPVT | Flecainide in patient with aggressive catecholaminergic polymorphic ventricular tachycardia due to novel RYR2 mutation. Minerva Cardioangiol. 2014 62(4):363-6. 25012103 | |||
| p.T415A | c.1243A>G | Putative Benign | SIFT: tolerated Polyphen: benign | ||
| Reports | Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | |||