No paralogue variants have been mapped to residue 841 for RYR1.
RYR1 | HEAVLPRERLHLEPIKEYRREGPRGPHLVG>P<SRCLSHTDFVPCPVDTVQIVLPPHLERIRE | 871 |
RYR2 | YEAVLPKEKLKVEHSREYKQERTYTRDLLG>P<TVSLTQAAFTPIPVDTSQIVLPPHLERIRE | 883 |
RYR3 | YEALLPKEKMRLEPVKEYKRDADGIRDLLG>T<TQFLSQASFIPCPVDTSQVILPPHLEKIRD | 870 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P841L | c.2522C>T | Putative Benign | rs368051427 | SIFT: deleterious Polyphen: probably damaging |