No paralogue variants have been mapped to residue 2918 for RYR1.
RYR1 | RKKKQELEAKGGGTHPLLVPYDTLTAKEKA>R<DREKAQELLKFLQMNGYAVTRGLKDMELDS | 2948 |
RYR2 | KKKKMELESKGGGNHPLLVPYDTLTAKEKA>K<DREKAQDILKFLQINGYAVSRGFKDLELDT | 2914 |
RYR3 | KKKKLELESKGGGSHPLLVPYDTLTAKEKF>K<DREKAQDLFKFLQVNGIIVSRGMKDMELDA | 2809 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2918G | c.8752C>G | Putative Benign | SIFT: deleterious Polyphen: benign |