No paralogue variants have been mapped to residue 2018 for RYR2.
RYR2 | PEEIRDQLLDFHEDLMTHCGIELDEDG-SL>D<GNSDLTIRGRLLSLVEKVTYLKKKQA--EK | 2046 |
RYR1 | PEEIRQDLLDFHQDLLAHCGIQLDGEEEEP>-<-EEETTLGSRLMSLLEKVRLVKKKEEKPEE | 2082 |
RYR3 | PEEIREELYDFHEDLLLHCGVPLEEEE-EE>-<-EEDTSWTGKLCALVYKIKGPPKPEK--EQ | 1944 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2018N | c.6052G>A | Putative Benign | SIFT: Polyphen: |