No paralogue variants have been mapped to residue 2958 for RYR2.
| RYR2 | LIRYVDEAHQYILEFDGG-SRGKGEHFPYE>Q<EIKFFAKVVLPLIDQYFKNHRLYFLSAASR | 2988 |
| RYR1 | LLRWMDISQEFIAHLEAVVSSGRVEKSPHE>Q<EIKFFAKILLPLINQYFTNHCLYFLSTPAK | 3023 |
| RYR3 | ILKYVDSAQEFIAHLEAIVSSGKTEKSPRD>Q<EIKFFAKVLLPLVDQYFTSHCLYFLSSPLK | 2884 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Q2958R | c.8873A>G | Conflict | rs34967813 | SIFT: tolerated Polyphen: possibly damaging | |
| Reports | Inherited Arrhythmia | CPVT | Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2011 8(6):864-71. 21315846 | ||
| Benign | 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 | ||||
| Putative Benign | Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 2001 10(3):189-94. 11159936 | ||||
| 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 | |||
| Unknown | Systematic assessment of patients with unexplained cardiac arrest: Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER). Circulation. 2009 120(4):278-85. 19597050 | ||||
| Inherited Arrhythmia | CPVT | Evolution of a genetic diagnosis. Clin Genet. 2014 86(6):580-4. doi: 10.1111/cge.12320. 24237251 | |||
| p.Q2958H | c.8874A>T | Putative Benign | SIFT: Polyphen: | ||