No paralogue variants have been mapped to residue 2939 for RYR1.
RYR1 | DTLTAKEKARDREKAQELLKFLQMNGYAVT>R<GLKDMELDSSSIEKRFAFGFLQQLLRWMDI | 2969 |
RYR2 | DTLTAKEKAKDREKAQDILKFLQINGYAVS>R<GFKDLELDTPSIEKRFAYSFLQQLIRYVDE | 2935 |
RYR3 | DTLTAKEKFKDREKAQDLFKFLQVNGIIVS>R<GMKDMELDASSMEKRFAYKFLKKILKYVDS | 2830 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2939K | c.8816G>A | Other Myopathy | rs118192125 | SIFT: Polyphen: | |
Reports | Other Myopathy | Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007 130(Pt 8):2024-36. 17483490 | |||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
Other Myopathy | Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2010 20(3):166-73. doi: 10.1016/j.nmd.2009.12.005. 20080402 |