No paralogue variants have been mapped to residue 2067 for RYR2.
RYR2 | LKKKQA--EKPVESDSKKSSTLQQLISETM>V<RWAQESVIEDPELVRAMFVLLHRQYDGIGG | 2097 |
RYR1 | VKKKEEKPEEERSAEESKPRSLQELVSHMV>V<RWAQEDFVQSPELVRAMFSLLHRQYDGLGE | 2133 |
RYR3 | PPKPEK--EQPTEEEERCPTTLKELISQTM>I<CWAQEDQIQDSELVRMMFNLLRRQYDSIGE | 1995 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2067I | c.6199G>A | Putative Benign | SIFT: tolerated Polyphen: benign |