No paralogue variants have been mapped to residue 848 for RYR2.
RYR2 | GYAPCYEAVLPKEKLKVEHSREYKQERTYT>R<DLLGPTVSLTQAAFTPIPVDTSQIVLPPHL | 878 |
RYR1 | GYAPCHEAVLPRERLHLEPIKEYRREGPRG>P<HLVGPSRCLSHTDFVPCPVDTVQIVLPPHL | 866 |
RYR3 | GYAPCYEALLPKEKMRLEPVKEYKRDADGI>R<DLLGTTQFLSQASFIPCPVDTSQVILPPHL | 865 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R848C | c.2542C>T | Putative Benign | SIFT: Polyphen: |