No paralogue variants have been mapped to residue 2510 for RYR2.
| RYR2 | VQDFLLHLLEVGFLPDLRAAASLDTAALSA>T<DMALALNRYLCTAVLPLLTRCAPLFAGTEH | 2540 |
| RYR1 | NQDFLLHVLDVGFLPDMRAAASLDTATFST>T<EMALALNRYLCLAVLPLITKCAPLFAGTEH | 2574 |
| RYR3 | DQTFLLHLLEVGFLPDLRASASLDTVSLST>T<EAALALNRYICSAVLPLLTRCAPLFAGTEH | 2437 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T2510A | c.7528A>G | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
| 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 | 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.T2510I | c.7529C>T | Putative Benign | SIFT: Polyphen: | ||