No paralogue variants have been mapped to residue 4860 for RYR2.
| RYR2 | EIEDPAGDEYEIYRIIFDITFFFFVIVILL>A<IIQGLIIDAFGELRDQQEQVKEDMETKCFI | 4890 |
| RYR1 | EIEDPAGDEYELYRVVFDITFFFFVIVILL>A<IIQGLIIDAFGELRDQQEQVKEDMETKCFI | 4961 |
| RYR3 | EIEDPAGDPYEMYRIVFDITFFFFVIVILL>A<IIQGLIIDAFGELRDQQEQVREDMETKCFI | 4793 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A4860G | c.14579C>G | Inherited Arrhythmia | CPVT | rs121918606 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | CPVT | Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 106(1):69-74. 12093772 | ||
| 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 | Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death. Proc Natl Acad Sci U S A. 2007 104(46):18309-14. 17984046 | ||||
| Inherited Arrhythmia | CPVT | Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function. Proc Natl Acad Sci U S A. 2015 112(13):E1669-77. doi: 10.1073/pnas.1419795112. 25775566 | |||