No paralogue variants have been mapped to residue 849 for RYR2.
RYR2 | YAPCYEAVLPKEKLKVEHSREYKQERTYTR>D<LLGPTVSLTQAAFTPIPVDTSQIVLPPHLE | 879 |
RYR1 | YAPCHEAVLPRERLHLEPIKEYRREGPRGP>H<LVGPSRCLSHTDFVPCPVDTVQIVLPPHLE | 867 |
RYR3 | YAPCYEALLPKEKMRLEPVKEYKRDADGIR>D<LLGTTQFLSQASFIPCPVDTSQVILPPHLE | 866 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D849N | c.2545G>A | Putative Benign | rs372569289 | SIFT: tolerated Polyphen: probably damaging | |
p.D849E | c.2547C>A | Putative Benign | SIFT: Polyphen: |