No paralogue variants have been mapped to residue 1162 for RYR2.
RYR2 | ERAFAFDGFKAQRWHQGNEHYGRSWQAGDV>V<GCMVDMNEHTMMFTLNGEILLDDSGSELAF | 1192 |
RYR1 | ELAYVFNGHRGQRWHLGSEPFGRPWQPGDV>V<GCMIDLTENTIIFTLNGEVLMSDSGSETAF | 1178 |
RYR3 | DQAFVFEGNRGQRWHQGSGYFGRTWQPGDV>V<GCMINLDDASMIFTLNGELLITNKGSELAF | 1178 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1162M | c.3484G>A | Putative Benign | rs377030538 | SIFT: deleterious Polyphen: benign |