No paralogue variants have been mapped to residue 2349 for RYR1.
RYR1 | PDIGWNPCGGERYLDFLRFAVFVNGESVEE>N<ANVVVRLLIRKPECFGPALRGEGGSGLLAA | 2379 |
RYR2 | PDIGWNPVEGERYLDFLRFAVFCNGESVEE>N<ANVVVRLLIRRPECFGPALRGEGGNGLLAA | 2346 |
RYR3 | PDVGWNPIEGERYLSFLRFAVFVNSESVEE>N<ASVVVKLLIRRPECFGPALRGEGGNGLLAA | 2243 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N2349Y | c.7045A>T | Putative Benign | SIFT: Polyphen: |