No paralogue variants have been mapped to residue 829 for RYR1.
RYR1 | FKFLPPPGYAPCHEAVLPRERLHLEPIKEY>R<REGPRGPHLVGPSRCLSHTDFVPCPVDTVQ | 859 |
RYR2 | FKFLPPPGYAPCYEAVLPKEKLKVEHSREY>K<QERTYTRDLLGPTVSLTQAAFTPIPVDTSQ | 871 |
RYR3 | FKFLPPSGYAPCYEALLPKEKMRLEPVKEY>K<RDADGIRDLLGTTQFLSQASFIPCPVDTSQ | 858 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R829Q | c.2486G>A | Putative Benign | rs372652716 | SIFT: tolerated Polyphen: possibly damaging | |
p.R829G | c.2485C>G | Putative Benign | SIFT: Polyphen: |