No paralogue variants have been mapped to residue 2049 for RYR1.
RYR1 | EDCPLPEEIRQDLLDFHQDLLAHCGIQLDG>E<EEEP--EEETTLGSRLMSLLEKVRLVKKKE | 2077 |
RYR2 | SECPCPEEIRDQLLDFHEDLMTHCGIELDE>D<G-SLDGNSDLTIRGRLLSLVEKVTYLKKKQ | 2043 |
RYR3 | -NCPCPEEIREELYDFHEDLLLHCGVPLEE>E<E-EE--EEDTSWTGKLCALVYKIKGPPKPE | 1941 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2049G | c.6146A>G | Putative Benign | rs200706743 | SIFT: Polyphen: benign | |
p.E2049Q | c.6145G>C | Putative Benign | SIFT: Polyphen: |