No paralogue variants have been mapped to residue 800 for RYR1.
RYR1 | FNLDGLFFPVVSFSAGVKVRFLLGGRHGEF>K<FLPPPGYAPCHEAVLPRERLHLEPIKEYRR | 830 |
RYR2 | FNIDGLFFPVVSFSAGIKVRFLLGGRHGEF>K<FLPPPGYAPCYEAVLPKEKLKVEHSREYKQ | 842 |
RYR3 | FNTDGLFFPVMSFSAGVKVRFLMGGRHGEF>K<FLPPSGYAPCYEALLPKEKMRLEPVKEYKR | 829 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K800R | c.2399A>G | Putative Benign | SIFT: Polyphen: |