No paralogue variants have been mapped to residue 827 for RYR1.
RYR1 | GEFKFLPPPGYAPCHEAVLPRERLHLEPIK>E<YRREGPRGPHLVGPSRCLSHTDFVPCPVDT | 857 |
RYR2 | GEFKFLPPPGYAPCYEAVLPKEKLKVEHSR>E<YKQERTYTRDLLGPTVSLTQAAFTPIPVDT | 869 |
RYR3 | GEFKFLPPSGYAPCYEALLPKEKMRLEPVK>E<YKRDADGIRDLLGTTQFLSQASFIPCPVDT | 856 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E827V | c.2480A>T | Putative Benign | SIFT: Polyphen: |