No paralogue variants have been mapped to residue 1698 for RYR1.
RYR1 | LYRAVCALGNNRVAHALCSHVDQAQLLHAL>E<DAHLPGPLRAGYYDLLISIHLESACRSRRS | 1728 |
RYR2 | LYSAVCALGNHRVAHALCSHVDEPQLLYAI>E<NKYMPGLLRAGYYDLLIDIHLSSYATARLM | 1720 |
RYR3 | LYSAVCALGNSRVAYALCSHVDLSQLFYAI>D<NKYLPGLLRSGFYDLLISIHLASAKERKLM | 1624 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1698K | c.5092G>A | Putative Benign | SIFT: Polyphen: |