No paralogue variants have been mapped to residue 2156 for RYR2.
RYR2 | IRSLLSVRMGKEEEKLMIRGLGDIMNNKVF>Y<QHPNLMRALGMHETVMEVMVNVLGGGESKE | 2186 |
RYR1 | IRSLLIVQMGPQEENLMIQSIGNIMNNKVF>Y<QHPNLMRALGMHETVMEVMVNVLGGGESKE | 2222 |
RYR3 | IRSLLSVRMGKEEELLMINGLGDIMNNKVF>Y<QHPNLMRVLGMHETVMEVMVNVLGT-EKSQ | 2083 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y2156C | c.6467A>G | Putative Benign | SIFT: deleterious Polyphen: probably damaging | ||
Reports | Putative 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 |