No paralogue variants have been mapped to residue 4535 for RYR1.
RYR1 | VPEPTPEPPKKQ---------APPSPPPKK>E<EAGGEFWGELEVQRVKFLNYLSRNFYTLRF | 4565 |
RYR2 | KAKEDKGKQKLR--------QLHTHRYGEP>E<VPESAFWKKIIAYQQKLLNYFARNFYNMRM | 4504 |
RYR3 | KDKEEEQAEYLWTEVTKKKKRRCGQKVEKP>E<AFTANFFKGLEIYQTKLLHYLARNFYNLRF | 4415 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4535K | c.13603G>A | Putative Benign | rs141444745 | SIFT: Polyphen: |