No paralogue variants have been mapped to residue 807 for RYR2.
RYR2 | GMFENFNIDGLFFPVVSFSAGIKVRFLLGG>R<HGEFKFLPPPGYAPCYEAVLPKEKLKVEHS | 837 |
RYR1 | GVFESFNLDGLFFPVVSFSAGVKVRFLLGG>R<HGEFKFLPPPGYAPCHEAVLPRERLHLEPI | 825 |
RYR3 | GMFENFNTDGLFFPVMSFSAGVKVRFLMGG>R<HGEFKFLPPSGYAPCYEALLPKEKMRLEPV | 824 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R807Q | c.2420G>A | Putative Benign | SIFT: Polyphen: |