No paralogue variants have been mapped to residue 1149 for RYR1.
RYR1 | LAYVFNGHRGQRWHLGSEPFGRPWQPGDVV>G<CMIDLTENTIIFTLNGEVLMSDSGSETAFR | 1179 |
RYR2 | RAFAFDGFKAQRWHQGNEHYGRSWQAGDVV>G<CMVDMNEHTMMFTLNGEILLDDSGSELAFK | 1193 |
RYR3 | QAFVFEGNRGQRWHQGSGYFGRTWQPGDVV>G<CMINLDDASMIFTLNGELLITNKGSELAFA | 1179 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1149D | c.3446G>A | Putative Benign | SIFT: deleterious Polyphen: probably damaging |