No paralogue variants have been mapped to residue 795 for RYR1.
RYR1 | GVFESFNLDGLFFPVVSFSAGVKVRFLLGG>R<HGEFKFLPPPGYAPCHEAVLPRERLHLEPI | 825 |
RYR2 | GMFENFNIDGLFFPVVSFSAGIKVRFLLGG>R<HGEFKFLPPPGYAPCYEAVLPKEKLKVEHS | 837 |
RYR3 | GMFENFNTDGLFFPVMSFSAGVKVRFLMGG>R<HGEFKFLPPSGYAPCYEALLPKEKMRLEPV | 824 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R795H | c.2384G>A | Putative Benign | rs201635585 | SIFT: Polyphen: probably damaging | |
p.R795C | c.2383C>T | Putative Benign | SIFT: deleterious Polyphen: probably damaging |