No paralogue variants have been mapped to residue 84 for RYR1.
RYR1 | AQNVPPDLAICCFVLEQSLSVRALQEMLAN>T<VEAG--V---E-------SSQGGGHRTLLY | 102 |
RYR2 | SKNVPPDLSICTFVLEQSLSVRALQEMLAN>T<VEKSEGQVDVEKWKFMMKTAQGGGHRTLLY | 115 |
RYR3 | AKYIPPDLCVCNFVLEQSLSVRALQEMLAN>T<GENG-GE---G-------AAQGGGHRTLLY | 105 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T84M | c.251C>T | Putative Benign | rs186983396 | SIFT: Polyphen: probably damaging | |
p.T84R | c.251C>G | Putative Benign | SIFT: Polyphen: |