No paralogue variants have been mapped to residue 2192 for RYR2.
RYR2 | MRALGMHETVMEVMVNVLGGGESKEITFPK>M<VANCCRFLCYFCRISRQNQKAMFDHLSYLL | 2222 |
RYR1 | MRALGMHETVMEVMVNVLGGGESKEIRFPK>M<VTSCCRFLCYFCRISRQNQRSMFDHLSYLL | 2258 |
RYR3 | MRVLGMHETVMEVMVNVLGT-EKSQIAFPK>M<VASCCRFLCYFCRISRQNQKAMFEHLSYLL | 2119 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2192L | c.6574A>T | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | CPVT | Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086 |