No paralogue variants have been mapped to residue 1848 for RYR2.
RYR2 | FVPLIKLFYTLLIMGIFHNEDLKHILQLIE>P<SVFKEAATPEEESDTL--E-K---ELS--- | 1869 |
RYR1 | FVPVLKLVSTLLVMGIFGDEDVKQILKMIE>P<EVFTEEEEEEDEEEEGEEEDEEEKEEDEEE | 1898 |
RYR3 | FVPVLKLIGTLLVMGVFDDDDVRQILLLID>P<SVFGEHSAGTEEGAEK--E-E---VTQ--- | 1773 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1848S | c.5542C>T | Putative Benign | SIFT: Polyphen: | ||
p.Pro1848Leu | c.5543C>T | Unknown | SIFT: Polyphen: |