No paralogue variants have been mapped to residue 4650 for RYR2.
| RYR2 | QPSEDDIKGQWDRLVINTQSFPNNYWDKFV>K<RKVMDKYGEFYGRDRISELLGMDKAALDFS | 4680 |
| RYR1 | QPEDDDVKGQWDRLVLNTPSFPSNYWDKFV>K<RKVLDKHGDIYGRERIAELLGMDLATLEIT | 4752 |
| RYR3 | QPSEDDIKGQWDRLVINTPSFPNNYWDKFV>K<RKVINKYGDLYGAERIAELLGLDKNALDFS | 4585 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K4650E | c.13948A>G | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: benign | |
| Reports | Inherited Arrhythmia | CPVT | Contribution of inherited heart disease to sudden cardiac death in childhood. Pediatrics. 2007 120(4):e967-73. 17908752 | ||
| 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 | |||
| Inherited Arrhythmia | CPVT | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||