No paralogue variants have been mapped to residue 721 for RYR2.
RYR2 | THLRVGWASTEGYSPYPGGGEEWGGNGVGD>D<LFSYGFDGLHLWSGCIARTVSSPNQHLLRT | 751 |
RYR1 | THLRVGWALTEGYTPYPGAGEGWGGNGVGD>D<LYSYGFDGLHLWTGHVARPVTSPGQHLLAP | 739 |
RYR3 | THLRVGWASSSGYAPYPGGGEGWGGNGVGD>D<LYSYGFDGLHLWSGRIPRAVASINQHLLRS | 738 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D721E | c.2163T>A | Putative Benign | SIFT: Polyphen: |