No paralogue variants have been mapped to residue 2888 for RYR2.
RYR2 | MELESKGGGNHPLLVPYDTLTAKEKAKDRE>K<AQDILKFLQINGYAVSRGFKDLELDTPSIE | 2918 |
RYR1 | QELEAKGGGTHPLLVPYDTLTAKEKARDRE>K<AQELLKFLQMNGYAVTRGLKDMELDSSSIE | 2952 |
RYR3 | LELESKGGGSHPLLVPYDTLTAKEKFKDRE>K<AQDLFKFLQVNGIIVSRGMKDMELDASSME | 2813 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K2888Q | c.8662A>C | Putative Benign | SIFT: deleterious Polyphen: probably damaging |