No paralogue variants have been mapped to residue 2050 for RYR1.
RYR1 | DCPLPEEIRQDLLDFHQDLLAHCGIQLDGE>E<EEP--EEETTLGSRLMSLLEKVRLVKKKEE | 2078 |
RYR2 | ECPCPEEIRDQLLDFHEDLMTHCGIELDED>G<-SLDGNSDLTIRGRLLSLVEKVTYLKKKQA | 2044 |
RYR3 | NCPCPEEIREELYDFHEDLLLHCGVPLEEE>E<-EE--EEDTSWTGKLCALVYKIKGPPKPEK | 1942 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2050G | c.6149A>G | Putative Benign | rs201098779 | SIFT: Polyphen: probably damaging |