No paralogue variants have been mapped to residue 1170 for RYR2.
RYR2 | FKAQRWHQGNEHYGRSWQAGDVVGCMVDMN>E<HTMMFTLNGEILLDDSGSELAFKDFDVGDG | 1200 |
RYR1 | HRGQRWHLGSEPFGRPWQPGDVVGCMIDLT>E<NTIIFTLNGEVLMSDSGSETAFREIEIGDG | 1186 |
RYR3 | NRGQRWHQGSGYFGRTWQPGDVVGCMINLD>D<ASMIFTLNGELLITNKGSELAFADYEIENG | 1186 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1170K | c.3508G>A | Putative Benign | SIFT: Polyphen: |