No paralogue variants have been mapped to residue 2605 for RYR2.
RYR2 | SICGQLRPSMMQHLLRRLVFDVPLLNEHAK>M<PLKLLTNHYERCWKYYCLPGGWGNFGAASE | 2635 |
RYR1 | SLCRYIRPSMLQHLLRRLVFDVPILNEFAK>M<PLKLLTNHYERCWKYYCLPTGWANFGVTSE | 2669 |
RYR3 | AICNHLRPSMLQQLLRRLVFDVPQLNEYCK>M<PLKLLTNHYEQCWKYYCLPSGWGSYGLAVE | 2532 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2605V | c.7813A>G | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | CPVT | Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives. Circ Arrhythm Electrophysiol. 2012 5(4):748-56. doi: 10.1161/CIRCEP.112.970517. 22787013 | ||
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 |