No paralogue variants have been mapped to residue 4470 for RYR2.
RYR2 | EKEEKAKEDKGKQKLR--------QLHTHR>Y<GEPEVPESAFWKKIIAYQQKLLNYFARNFY | 4500 |
RYR1 | EKEEVPEPTPEPPKKQ---------APPSP>P<PKKEEAGGEFWGELEVQRVKFLNYLSRNFY | 4561 |
RYR3 | EKEDKDKEEEQAEYLWTEVTKKKKRRCGQK>V<EKPEAFTANFFKGLEIYQTKLLHYLARNFY | 4411 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y4470C | c.13409A>G | Putative Benign | SIFT: Polyphen: |