No paralogue variants have been mapped to residue 134 for RYR1.
RYR1 | HAILLRHAHSRMYLSCLTTSRSMTDKLAFD>V<GLQEDATGEACWWTMHPASKQRSEGEKVRV | 164 |
RYR2 | HAILLRHSYSGMYLCCLSTSRSSTDKLAFD>V<GLQEDTTGEACWWTIHPASKQRSEGEKVRV | 177 |
RYR3 | HAVLLRHSFSGMYLTCLTTSRSQTDKLAFD>V<GLREHATGEACWWTIHPASKQRSEGEKVRI | 167 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V134M | c.400G>A | Putative Benign | SIFT: Polyphen: |