No paralogue variants have been mapped to residue 1144 for RYR1.
RYR1 | LGADELAYVFNGHRGQRWHLGSEPFGRPWQ>P<GDVVGCMIDLTENTIIFTLNGEVLMSDSGS | 1174 |
RYR2 | LGSDERAFAFDGFKAQRWHQGNEHYGRSWQ>A<GDVVGCMVDMNEHTMMFTLNGEILLDDSGS | 1188 |
RYR3 | LGADDQAFVFEGNRGQRWHQGSGYFGRTWQ>P<GDVVGCMINLDDASMIFTLNGELLITNKGS | 1174 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1144L | c.3431C>T | Putative Benign | rs201940876 | SIFT: Polyphen: benign |