No paralogue variants have been mapped to residue 3800 for RYR2.
| RYR2 | NSTVQQKMLDYLKEKKDVGFFQSLAGLMQS>C<SVLDLNAFERQNKAEGLGMVTEEGS----- | 3825 |
| RYR1 | NAEVQQKMLDYLKDKKEVGFFQSIQALMQT>C<SVLDLNAFERQNKAEGLGMVNEDGTVINRQ | 3868 |
| RYR3 | NAGVQQKMLDYLKEKKDAGFFQSLSGLMQS>C<SVLDLNAFERQNKAEGLGMVTEEGTLIVRE | 3720 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.C3800F | c.11399G>T | Inherited Arrhythmia | CPVT | SIFT: deleterious 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.C3800S | c.11398T>A | Putative Benign | SIFT: deleterious Polyphen: benign | ||