No paralogue variants have been mapped to residue 1689 for RYR1.
RYR1 | QRFHSHTLRLYRAVCALGNNRVAHALCSHV>D<QAQLLHALEDAHLPGPLRAGYYDLLISIHL | 1719 |
RYR2 | LKFHYHTLRLYSAVCALGNHRVAHALCSHV>D<EPQLLYAIENKYMPGLLRAGYYDLLIDIHL | 1711 |
RYR3 | MRFHYHTLRLYSAVCALGNSRVAYALCSHV>D<LSQLFYAIDNKYLPGLLRSGFYDLLISIHL | 1615 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1689E | c.5067C>G | Putative Benign | SIFT: Polyphen: |