No paralogue variants have been mapped to residue 4540 for RYR1.
RYR1 | PEPPKKQ---------APPSPPPKKEEAGG>E<FWGELEVQRVKFLNYLSRNFYTLRFLALFL | 4570 |
RYR2 | KGKQKLR--------QLHTHRYGEPEVPES>A<FWKKIIAYQQKLLNYFARNFYNMRMLALFV | 4509 |
RYR3 | EQAEYLWTEVTKKKKRRCGQKVEKPEAFTA>N<FFKGLEIYQTKLLHYLARNFYNLRFLALFV | 4420 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4540K | c.13618G>A | Putative Benign | SIFT: tolerated Polyphen: |