No paralogue variants have been mapped to residue 803 for RYR1.
RYR1 | DGLFFPVVSFSAGVKVRFLLGGRHGEFKFL>P<PPGYAPCHEAVLPRERLHLEPIKEYRREGP | 833 |
RYR2 | DGLFFPVVSFSAGIKVRFLLGGRHGEFKFL>P<PPGYAPCYEAVLPKEKLKVEHSREYKQERT | 845 |
RYR3 | DGLFFPVMSFSAGVKVRFLMGGRHGEFKFL>P<PSGYAPCYEALLPKEKMRLEPVKEYKRDAD | 832 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P803S | c.2407C>T | Putative Benign | rs373585562 | SIFT: deleterious Polyphen: probably damaging |