No paralogue variants have been mapped to residue 4124 for RYR2.
| RYR2 | IGFNVAVLLTNLSEHMPNDTRLQTFLELAE>S<VLNYFQPFLGRIEIMGSAKRIERVYFEISE | 4154 |
| RYR1 | IGFNVAVLLTNLSEHVPHDPRLHNFLELAE>S<ILEYFRPYLGRIEIMGASRRIERIYFEISE | 4198 |
| RYR3 | IGFNVAVLLTNLSEHMPNDSRLKCLLDPAE>S<VLNYFEPYLGRIEIMGGAKKIERVYFEISE | 4050 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S4124G | c.12370A>G | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans. Nat Med. 2009 15(4):380-3. 19330009 | ||
| 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.S4124T | c.12371G>C | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm. 2005 2(10):1099-105. 16188589 | ||
| 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.S4124R | c.12372C>A | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086 | ||
| p.S4124N | c.12371G>A | Inherited Arrhythmia | CPVT | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | CPVT | Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS One. 2015 10(6):e0131517. doi: 10.1371/journal.pone.0131517. 26114861 | ||