No paralogue variants have been mapped to residue 60 for RYR2.
RYR2 | KEQQKLCLAAEGFGNRLCFLESTSNSKNVP>P<DLSICTFVLEQSLSVRALQEMLANTVEKSE | 90 |
RYR1 | KEQLKLCLAAEGFGNRLCFLEPTSNAQNVP>P<DLAICCFVLEQSLSVRALQEMLANTVEAG- | 88 |
RYR3 | KEQRKFCLAAEGLGNRLCFLEPTSEAKYIP>P<DLCVCNFVLEQSLSVRALQEMLANTGENG- | 90 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P60S | c.178C>T | Putative Benign | SIFT: deleterious Polyphen: probably damaging |