No paralogue variants have been mapped to residue 3042 for RYR2.
RYR2 | GVLVRHRISLFGNDATSIVNCLHILGQTLD>A<RTVMKTGLESVKSALRAFLDNAAEDLEKTM | 3072 |
RYR1 | AALVRHRVSLFGTDAPAVVNCLHILARSLD>A<RTVMKSGPEIVKAGLRSFFESASEDIEKMV | 3107 |
RYR3 | AALVRHRISLFGSDSTTMVSCLHILAQTLD>T<RTVMKSGSELVKAGLRAFFENAAEDLEKTS | 2968 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Ala3042Glu | c.9125C>A | Unknown | SIFT: Polyphen: |