No paralogue variants have been mapped to residue 4182 for RYR2.
RYR2 | ISESSRTQWEKPQVKESKRQFIFDVVNEGG>E<KEKMELFVNFCEDTIFEMQLAAQISESDLN | 4212 |
RYR1 | ISETNRAQWEMPQVKESKRQFIFDVVNEGG>E<AEKMELFVSFCEDTIFEMQIAAQISEPEGE | 4256 |
RYR3 | ISESSRTQWEKPQVKESKRQFIFDVVNEGG>E<QEKMELFVNFCEDTIFEMQLASQISESDSA | 4108 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Glu4182Gln | c.12544G>C | Unknown | SIFT: Polyphen: | ||
p.Glu4182Ala | c.12545A>C | Unknown | SIFT: Polyphen: |