No paralogue variants have been mapped to residue 124 for RYR1.
RYR1 | GGGHRTLLYGHAILLRHAHSRMYLSCLTTS>R<SMTDKLAFDVGLQEDATGEACWWTMHPASK | 154 |
RYR2 | GGGHRTLLYGHAILLRHSYSGMYLCCLSTS>R<SSTDKLAFDVGLQEDTTGEACWWTIHPASK | 167 |
RYR3 | GGGHRTLLYGHAVLLRHSFSGMYLTCLTTS>R<SQTDKLAFDVGLREHATGEACWWTIHPASK | 157 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R124C | c.370C>T | Putative Benign | SIFT: Polyphen: |