No paralogue variants have been mapped to residue 2267 for RYR2.
| RYR2 | STPLDVAAASVMDNNELALALREPDLEKVV>R<YLAGCGLQSCQMLVSKGYPDIGWNPVEGER | 2297 |
| RYR1 | STPLDVAAASVIDNNELALALQEQDLEKVV>S<YLAGCGLQSCPMLVAKGYPDIGWNPCGGER | 2330 |
| RYR3 | STPLDVAASSVMDNNELALSLEEPDLEKVV>T<YLAGCGLQSCPMLLAKGYPDVGWNPIEGER | 2194 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R2267H | c.6800G>A | Other Cardiac Phenotype | SIFT: tolerated Polyphen: probably damaging | ||
| Reports | Other Cardiac Phenotype | A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. Heart Rhythm. 2007 4(6):733-9. 17556193 | |||
| Other Cardiac Phenotype | 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.R2267C | c.6799C>T | Putative Benign | SIFT: deleterious Polyphen: possibly damaging | ||