No paralogue variants have been mapped to residue 2353 for RYR1.
RYR1 | WNPCGGERYLDFLRFAVFVNGESVEENANV>V<VRLLIRKPECFGPALRGEGGSGLLAAIEEA | 2383 |
RYR2 | WNPVEGERYLDFLRFAVFCNGESVEENANV>V<VRLLIRRPECFGPALRGEGGNGLLAAMEEA | 2350 |
RYR3 | WNPIEGERYLSFLRFAVFVNSESVEENASV>V<VKLLIRRPECFGPALRGEGGNGLLAAMQGA | 2247 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2353M | c.7057G>A | Putative Benign | SIFT: Polyphen: |