No paralogue variants have been mapped to residue 3042 for RYR1.
RYR1 | NHCLYFLSTPAKVLGSGGHASNKEKEMITS>L<FCKLAALVRHRVSLFGTDAPAVVNCLHILA | 3072 |
RYR2 | NHRLYFLSAASRPLCSGGHASNKEKEMVTS>L<FCKLGVLVRHRISLFGNDATSIVNCLHILG | 3037 |
RYR3 | SHCLYFLSSPLKPLSSSGYASHKEKEMVAG>L<FCKLAALVRHRISLFGSDSTTMVSCLHILA | 2933 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3042R | c.9125T>G | Putative Benign | SIFT: Polyphen: |