No paralogue variants have been mapped to residue 40 for RYR2.
RYR2 | EIQFLRTDDEVVLQCTATIHKEQQKLCLAA>E<GFGNRLCFLESTSNSKNVPPDLSICTFVLE | 70 |
RYR1 | EVQFLRTDDEVVLQCSATVLKEQLKLCLAA>E<GFGNRLCFLEPTSNAQNVPPDLAICCFVLE | 69 |
RYR3 | EIQFLRTEDEVVLQCIATIHKEQRKFCLAA>E<GLGNRLCFLEPTSEAKYIPPDLCVCNFVLE | 71 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E40G | c.119A>G | Putative Benign | rs371127731 | SIFT: deleterious Polyphen: probably damaging |