No paralogue variants have been mapped to residue 2359 for RYR1.
RYR1 | ERYLDFLRFAVFVNGESVEENANVVVRLLI>R<KPECFGPALRGEGGSGLLAAIEEAIRISED | 2389 |
RYR2 | ERYLDFLRFAVFCNGESVEENANVVVRLLI>R<RPECFGPALRGEGGNGLLAAMEEAIKIAED | 2356 |
RYR3 | ERYLSFLRFAVFVNSESVEENASVVVKLLI>R<RPECFGPALRGEGGNGLLAAMQGAIKISEN | 2253 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2359Q | c.7076G>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. Orphanet J Rare Dis. 2014 9(1):8. doi: 10.1186/1750-1172-9-8. 24433488 | |||
p.R2359W | c.7075C>T | Other Myopathy | SIFT: Polyphen: |