No paralogue variants have been mapped to residue 1171 for RYR2.
RYR2 | KAQRWHQGNEHYGRSWQAGDVVGCMVDMNE>H<TMMFTLNGEILLDDSGSELAFKDFDVGDGF | 1201 |
RYR1 | RGQRWHLGSEPFGRPWQPGDVVGCMIDLTE>N<TIIFTLNGEVLMSDSGSETAFREIEIGDGF | 1187 |
RYR3 | RGQRWHQGSGYFGRTWQPGDVVGCMINLDD>A<SMIFTLNGELLITNKGSELAFADYEIENGF | 1187 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H1171R | c.3512A>G | Putative Benign | SIFT: Polyphen: |