No paralogue variants have been mapped to residue 816 for RYR1.
RYR1 | VKVRFLLGGRHGEFKFLPPPGYAPCHEAVL>P<RERLHLEPIKEYRREGPRGPHLVGPSRCLS | 846 |
RYR2 | IKVRFLLGGRHGEFKFLPPPGYAPCYEAVL>P<KEKLKVEHSREYKQERTYTRDLLGPTVSLT | 858 |
RYR3 | VKVRFLMGGRHGEFKFLPPSGYAPCYEALL>P<KEKMRLEPVKEYKRDADGIRDLLGTTQFLS | 845 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P816L | c.2447C>T | Putative Benign | rs376149732 | SIFT: deleterious Polyphen: probably damaging | |
p.P816S | c.2446C>T | Putative Benign | SIFT: Polyphen: |