No paralogue variants have been mapped to residue 121 for RYR1.
RYR1 | SSQGGGHRTLLYGHAILLRHAHSRMYLSCL>T<TSRSMTDKLAFDVGLQEDATGEACWWTMHP | 151 |
RYR2 | TAQGGGHRTLLYGHAILLRHSYSGMYLCCL>S<TSRSSTDKLAFDVGLQEDTTGEACWWTIHP | 164 |
RYR3 | AAQGGGHRTLLYGHAVLLRHSFSGMYLTCL>T<TSRSQTDKLAFDVGLREHATGEACWWTIHP | 154 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T121S | c.362C>G | Putative Benign | rs371874847 | SIFT: tolerated Polyphen: probably damaging |