No paralogue variants have been mapped to residue 3647 for RYR1.
RYR1 | KAVWHKLLSKQRRRAVVACFRMTPLYNLPT>H<RACNMFLESYKAAWILTEDHSFEDRMIDDL | 3677 |
RYR2 | KAVWHKLLSKQRKRAVVACFRMAPLYNLPR>H<RAVNLFLQGYEKSWIETEEHYFEDKLIEDL | 3644 |
RYR3 | KAVWHKLLSKQRKRAVVACFRMAPLYNLPR>H<RSINLFLHGYQRFWIETEEYSFEEKLVQDL | 3532 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H3647Q | c.10941C>G | Benign | rs114351116 | SIFT: Polyphen: benign |