No paralogue variants have been mapped to residue 4109 for RYR2.
| RYR2 | DYEEFVKRFHEPAKDIGFNVAVLLTNLSEH>M<PNDTRLQTFLELAESVLNYFQPFLGRIEIM | 4139 |
| RYR1 | NCEEFANRFQEPARDIGFNVAVLLTNLSEH>V<PHDPRLHNFLELAESILEYFRPYLGRIEIM | 4183 |
| RYR3 | NYVDFVDRFHEPAKDIGFNVAVLLTNLSEH>M<PNDSRLKCLLDPAESVLNYFEPYLGRIEIM | 4035 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M4109R | c.12326T>G | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | CPVT | Postpacing abnormal repolarization in catecholaminergic polymorphic ventricular tachycardia associated with a mutation in the cardiac ryanodine receptor gene. Heart Rhythm. 2011 8(10):1546-52. 21699856 | ||
| Inherited Arrhythmia | CPVT | Modeling of catecholaminergic polymorphic ventricular tachycardia with patient-specific human-induced pluripotent stem cells. J Am Coll Cardiol. 2012 60(11):990-1000. doi: 10.1016/j.jacc.2012.02.066. 22749309 | |||
| 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.Met4109Val | c.12325A>G | Unknown | SIFT: Polyphen: | ||