No paralogue variants have been mapped to residue 714 for RYR1.
RYR1 | GWALTEGYTPYPGAGEGWGGNGVGDDLYSY>G<FDGLHLWTGHVARPVTSPGQHLLAPEDVIS | 744 |
RYR2 | GWASTEGYSPYPGGGEEWGGNGVGDDLFSY>G<FDGLHLWSGCIARTVSSPNQHLLRTDDVIS | 756 |
RYR3 | GWASSSGYAPYPGGGEGWGGNGVGDDLYSY>G<FDGLHLWSGRIPRAVASINQHLLRSDDVVS | 743 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G714S | c.2140G>A | Putative Benign | SIFT: tolerated Polyphen: probably damaging |