No paralogue variants have been mapped to residue 4159 for RYR2.
RYR2 | FQPFLGRIEIMGSAKRIERVYFEISESSRT>Q<WEKPQVKESKRQFIFDVVNEGGEKEKMELF | 4189 |
RYR1 | FRPYLGRIEIMGASRRIERIYFEISETNRA>Q<WEMPQVKESKRQFIFDVVNEGGEAEKMELF | 4233 |
RYR3 | FEPYLGRIEIMGGAKKIERVYFEISESSRT>Q<WEKPQVKESKRQFIFDVVNEGGEQEKMELF | 4085 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q4159P | c.12476A>C | 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 | |||
Inherited Arrhythmia | CPVT | A novel RyR2 mutation in a 2-year-old baby presenting with atrial fibrillation, atrial flutter, and atrial ectopic tachycardia. Heart Rhythm. 2014 11(8):1480-3. doi: 10.1016/j.hrthm.2014.04.037. 24793461 |