No paralogue variants have been mapped to residue 1689 for RYR2.
RYR2 | RLYSAVCALGNHRVAHALCSHVDEPQLLYA>I<ENKYMPGLLRAGYYDLLIDIHLSSYATARL | 1719 |
RYR1 | RLYRAVCALGNNRVAHALCSHVDQAQLLHA>L<EDAHLPGPLRAGYYDLLISIHLESACRSRR | 1727 |
RYR3 | RLYSAVCALGNSRVAYALCSHVDLSQLFYA>I<DNKYLPGLLRSGFYDLLISIHLASAKERKL | 1623 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1689T | c.5066T>C | Putative Benign | SIFT: Polyphen: |