No paralogue variants have been mapped to residue 60 for RYR1.
RYR1 | EQLKLCLAAEGFGNRLCFLEPTSNAQNVPP>D<LAICCFVLEQSLSVRALQEMLANTVEAG-- | 88 |
RYR2 | EQQKLCLAAEGFGNRLCFLESTSNSKNVPP>D<LSICTFVLEQSLSVRALQEMLANTVEKSEG | 91 |
RYR3 | EQRKFCLAAEGLGNRLCFLEPTSEAKYIPP>D<LCVCNFVLEQSLSVRALQEMLANTGENG-G | 91 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D60Y | c.178G>T | 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.D60N | c.178G>A | Other Myopathy | rs118192160 | SIFT: Polyphen: | |
Reports | Other Myopathy | Central core disease is due to RYR1 mutations in more than 90% of patients. Brain. 2006 129(Pt 6):1470-80. 16621918 | |||
Other Myopathy | Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface. Nat Commun. 2013 4:1506. doi: 10.1038/ncomms2501. 23422674 | ||||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 |