No paralogue variants have been mapped to residue 1867 for RYR1.
RYR1 | QFVPVLKLVSTLLVMGIFGDEDVKQILKMI>E<PEVFTEEEEEEDEEEEGEEEDEEEKEEDEE | 1897 |
RYR2 | LFVPLIKLFYTLLIMGIFHNEDLKHILQLI>E<PSVFKEAATPEEESDTL--E-K---ELS-- | 1869 |
RYR3 | QFVPVLKLIGTLLVMGVFDDDDVRQILLLI>D<PSVFGEHSAGTEEGAEK--E-E---VTQ-- | 1773 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1867Q | c.5599G>C | Putative Benign | SIFT: Polyphen: |