No paralogue variants have been mapped to residue 1148 for RYR1.
RYR1 | ELAYVFNGHRGQRWHLGSEPFGRPWQPGDV>V<GCMIDLTENTIIFTLNGEVLMSDSGSETAF | 1178 |
RYR2 | ERAFAFDGFKAQRWHQGNEHYGRSWQAGDV>V<GCMVDMNEHTMMFTLNGEILLDDSGSELAF | 1192 |
RYR3 | DQAFVFEGNRGQRWHQGSGYFGRTWQPGDV>V<GCMINLDDASMIFTLNGELLITNKGSELAF | 1178 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1148I | c.3442G>A | Putative Benign | rs201174268 | SIFT: Polyphen: probably damaging |