No paralogue variants have been mapped to residue 1851 for RYR2.
RYR2 | LIKLFYTLLIMGIFHNEDLKHILQLIEPSV>F<KEAATPEEESDTL--E-K---ELS----VD | 1871 |
RYR1 | VLKLVSTLLVMGIFGDEDVKQILKMIEPEV>F<TEEEEEEDEEEEGEEEDEEEKEEDEEETAQ | 1901 |
RYR3 | VLKLIGTLLVMGVFDDDDVRQILLLIDPSV>F<GEHSAGTEEGAEK--E-E---VTQ----VE | 1775 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F1851L | c.5553T>A | Putative Benign | rs75230115 | SIFT: tolerated Polyphen: probably damaging |