No paralogue variants have been mapped to residue 157 for RYR2.
RYR2 | GMYLCCLSTSRSSTDKLAFDVGLQEDTTGE>A<CWWTIHPASKQRSEGEKVRVGDDLILVSVS | 187 |
RYR1 | RMYLSCLTTSRSMTDKLAFDVGLQEDATGE>A<CWWTMHPASKQRSEGEKVRVGDDIILVSVS | 174 |
RYR3 | GMYLTCLTTSRSQTDKLAFDVGLREHATGE>A<CWWTIHPASKQRSEGEKVRIGDDLILVSVS | 177 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A157S | c.469G>T | Putative Benign | SIFT: Polyphen: |