No paralogue variants have been mapped to residue 2328 for RYR2.
| RYR2 | YLDFLRFAVFCNGESVEENANVVVRLLIRR>P<ECFGPALRGEGGNGLLAAMEEAIKIAEDPS | 2358 |
| RYR1 | YLDFLRFAVFVNGESVEENANVVVRLLIRK>P<ECFGPALRGEGGSGLLAAIEEAIRISEDPA | 2391 |
| RYR3 | YLSFLRFAVFVNSESVEENASVVVKLLIRR>P<ECFGPALRGEGGNGLLAAMQGAIKISENPA | 2255 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P2328S | c.6982C>T | Inherited Arrhythmia | CPVT | rs121918603 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | CPVT | Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation. 2001 103(4):485-90. 11157710 | ||
| Inherited Arrhythmia | CPVT | Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak. Circulation. 2004 109(25):3208-14. 15197150 | |||
| 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 | ATP interacts with the CPVT mutation-associated central domain of the cardiac ryanodine receptor. Biochim Biophys Acta. 2013 1830(10):4426-32. doi: 10.1016/j.bbagen.2013.05.03 23747301 | |||
| p.Pro2328Leu | c.6983C>T | Unknown | SIFT: Polyphen: | ||