No paralogue variants have been mapped to residue 842 for RYR1.
RYR1 | EAVLPRERLHLEPIKEYRREGPRGPHLVGP>S<RCLSHTDFVPCPVDTVQIVLPPHLERIREK | 872 |
RYR2 | EAVLPKEKLKVEHSREYKQERTYTRDLLGP>T<VSLTQAAFTPIPVDTSQIVLPPHLERIREK | 884 |
RYR3 | EALLPKEKMRLEPVKEYKRDADGIRDLLGT>T<QFLSQASFIPCPVDTSQVILPPHLEKIRDR | 871 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S842I | c.2525G>T | Putative Benign | SIFT: Polyphen: |