No paralogue variants have been mapped to residue 2909 for RYR1.
RYR1 | AENYHNTWGRKKKQELEAKGGGTHPLLVPY>D<TLTAKEKARDREKAQELLKFLQMNGYAVTR | 2939 |
RYR2 | AENYHNIWAKKKKMELESKGGGNHPLLVPY>D<TLTAKEKAKDREKAQDILKFLQINGYAVSR | 2905 |
RYR3 | AENYHNIWAKKKKLELESKGGGSHPLLVPY>D<TLTAKEKFKDREKAQDLFKFLQVNGIIVSR | 2800 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2909N | c.8725G>A | Putative Benign | rs372974107 | SIFT: deleterious Polyphen: benign |