No paralogue variants have been mapped to residue 4201 for RYR2.
| RYR2 | QFIFDVVNEGGEKEKMELFVNFCEDTIFEM>Q<LAAQISESDLNERSANKEESEK-----ERP | 4226 |
| RYR1 | QFIFDVVNEGGEAEKMELFVSFCEDTIFEM>Q<IAAQISEPEGEPETDEDEGAGAAEAGAEGA | 4275 |
| RYR3 | QFIFDVVNEGGEQEKMELFVNFCEDTIFEM>Q<LASQISESDSADRPEEEEEDEDSSYVLEIA | 4127 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Q4201R | c.12602A>G | Inherited Arrhythmia | CPVT | rs121918605 | 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 | Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death. Circ Res. 2005 97(11):1173-81. 16239587 | |||
| 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 | |||