No paralogue variants have been mapped to residue 126 for RYR2.
RYR2 | EKWKFMMKTAQGGGHRTLLYGHAILLRHSY>S<GMYLCCLSTSRSSTDKLAFDVGLQEDTTGE | 156 |
RYR1 | E-------SSQGGGHRTLLYGHAILLRHAH>S<RMYLSCLTTSRSMTDKLAFDVGLQEDATGE | 143 |
RYR3 | G-------AAQGGGHRTLLYGHAVLLRHSF>S<GMYLTCLTTSRSQTDKLAFDVGLREHATGE | 146 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ser126Arg | c.378T>A | Unknown | SIFT: Polyphen: |