No paralogue variants have been mapped to residue 126 for RYR1.
RYR1 | GHRTLLYGHAILLRHAHSRMYLSCLTTSRS>M<TDKLAFDVGLQEDATGEACWWTMHPASKQR | 156 |
RYR2 | GHRTLLYGHAILLRHSYSGMYLCCLSTSRS>S<TDKLAFDVGLQEDTTGEACWWTIHPASKQR | 169 |
RYR3 | GHRTLLYGHAVLLRHSFSGMYLTCLTTSRS>Q<TDKLAFDVGLREHATGEACWWTIHPASKQR | 159 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M126V | c.376A>G | Putative Benign | rs146065960 | SIFT: Polyphen: benign |