No paralogue variants have been mapped to residue 134 for RYR2.
RYR2 | TAQGGGHRTLLYGHAILLRHSYSGMYLCCL>S<TSRSSTDKLAFDVGLQEDTTGEACWWTIHP | 164 |
RYR1 | SSQGGGHRTLLYGHAILLRHAHSRMYLSCL>T<TSRSMTDKLAFDVGLQEDATGEACWWTMHP | 151 |
RYR3 | AAQGGGHRTLLYGHAVLLRHSFSGMYLTCL>T<TSRSQTDKLAFDVGLREHATGEACWWTIHP | 154 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S134C | c.401C>G | Putative Benign | SIFT: Polyphen: |