No paralogue variants have been mapped to residue 846 for RYR1.
RYR1 | PRERLHLEPIKEYRREGPRGPHLVGPSRCL>S<HTDFVPCPVDTVQIVLPPHLERIREKLAEN | 876 |
RYR2 | PKEKLKVEHSREYKQERTYTRDLLGPTVSL>T<QAAFTPIPVDTSQIVLPPHLERIREKLAEN | 888 |
RYR3 | PKEKMRLEPVKEYKRDADGIRDLLGTTQFL>S<QASFIPCPVDTSQVILPPHLEKIRDRLAEN | 875 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S846L | c.2537C>T | Putative Benign | rs193922775 | SIFT: Polyphen: possibly damaging |