No paralogue variants have been mapped to residue 1845 for RYR2.
RYR2 | EFLFVPLIKLFYTLLIMGIFHNEDLKHILQ>L<IEPSVFKEAATPEEESDTL--E-K---ELS | 1869 |
RYR1 | EFQFVPVLKLVSTLLVMGIFGDEDVKQILK>M<IEPEVFTEEEEEEDEEEEGEEEDEEEKEED | 1895 |
RYR3 | EFQFVPVLKLIGTLLVMGVFDDDDVRQILL>L<IDPSVFGEHSAGTEEGAEK--E-E---VTQ | 1773 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1845F | c.5535G>T | Putative Benign | SIFT: Polyphen: |