No paralogue variants have been mapped to residue 622 for RYR2.
RYR2 | GHIKSIISLLDKHGRNHKVLDVLCSLCVCH>G<VAVRSNQHLICDNLLPGRDLLLQTRLVNHV | 652 |
RYR1 | NHIKSIISLLDKHGRNHKVLDVLCSLCVCN>G<VAVRSNQDLITENLLPGRELLLQTNLINYV | 640 |
RYR3 | GHIKSIISLLDKHGRNHKVLDILCSLCLCN>G<VAVRANQNLICDNLLPRRNLLLQTRLINDV | 639 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G622R | c.1864G>A | Putative Benign | rs376243998 | SIFT: deleterious Polyphen: probably damaging |