No paralogue variants have been mapped to residue 2247 for RYR1.
RYR1 | GGESKEIRFPKMVTSCCRFLCYFCRISRQN>Q<RSMFDHLSYLLENSGIG--L-GMQGSTPLD | 2274 |
RYR2 | GGESKEITFPKMVANCCRFLCYFCRISRQN>Q<KAMFDHLSYLLENSSVGLASPAMRGSTPLD | 2241 |
RYR3 | T-EKSQIAFPKMVASCCRFLCYFCRISRQN>Q<KAMFEHLSYLLENSSVGLASPSMRGSTPLD | 2138 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q2247R | c.6740A>G | Putative Benign | SIFT: Polyphen: |