No paralogue variants have been mapped to residue 2625 for RYR1.
RYR1 | LTKAQRDVIEDCLMSLCRYIRPSMLQHLLR>R<LVFDVPILNEFAKMPLKLLTNHYERCWKYY | 2655 |
RYR2 | LTKAQRDSIEVCLLSICGQLRPSMMQHLLR>R<LVFDVPLLNEHAKMPLKLLTNHYERCWKYY | 2621 |
RYR3 | LTKAQRDTIEECLLAICNHLRPSMLQQLLR>R<LVFDVPQLNEYCKMPLKLLTNHYEQCWKYY | 2518 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2625C | c.7873C>T | Putative Benign | rs377686237 | SIFT: deleterious Polyphen: benign | |
p.R2625L | c.7874G>T | Putative Benign | SIFT: Polyphen: | ||
p.R2625H | c.7874G>A | Putative Benign | SIFT: Polyphen: |