No paralogue variants have been mapped to residue 4178 for RYR2.
| RYR2 | VYFEISESSRTQWEKPQVKESKRQFIFDVV>N<EGGEKEKMELFVNFCEDTIFEMQLAAQISE | 4208 |
| RYR1 | IYFEISETNRAQWEMPQVKESKRQFIFDVV>N<EGGEAEKMELFVSFCEDTIFEMQIAAQISE | 4252 |
| RYR3 | VYFEISESSRTQWEKPQVKESKRQFIFDVV>N<EGGEQEKMELFVNFCEDTIFEMQLASQISE | 4104 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N4178S | c.12533A>G | Inherited Arrhythmia | CPVT | SIFT: tolerated 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 | |||
| p.N4178Y | c.12532A>T | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009 119(18):2426-34. 19398665 | ||
| 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 | |||