No paralogue variants have been mapped to residue 820 for RYR1.
RYR1 | FLLGGRHGEFKFLPPPGYAPCHEAVLPRER>L<HLEPIKEYRREGPRGPHLVGPSRCLSHTDF | 850 |
RYR2 | FLLGGRHGEFKFLPPPGYAPCYEAVLPKEK>L<KVEHSREYKQERTYTRDLLGPTVSLTQAAF | 862 |
RYR3 | FLMGGRHGEFKFLPPSGYAPCYEALLPKEK>M<RLEPVKEYKRDADGIRDLLGTTQFLSQASF | 849 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L820F | c.2458C>T | Putative Benign | SIFT: Polyphen: |