No paralogue variants have been mapped to residue 1146 for RYR1.
RYR1 | ADELAYVFNGHRGQRWHLGSEPFGRPWQPG>D<VVGCMIDLTENTIIFTLNGEVLMSDSGSET | 1176 |
RYR2 | SDERAFAFDGFKAQRWHQGNEHYGRSWQAG>D<VVGCMVDMNEHTMMFTLNGEILLDDSGSEL | 1190 |
RYR3 | ADDQAFVFEGNRGQRWHQGSGYFGRTWQPG>D<VVGCMINLDDASMIFTLNGELLITNKGSEL | 1176 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1146N | c.3436G>A | Putative Benign | SIFT: Polyphen: |