No paralogue variants have been mapped to residue 4638 for RYR1.
RYR1 | SSGW-GLGAGEEAEGDEDENMVYYFLEEST>G<YMEPALRCLSLLHTLVAFLCIIGYNCLKVP | 4668 |
RYR2 | AK-VTSLDS-----SSHRIIAVHYVLEESS>G<YMEPTLRILAILHTVISFFCIIGYYCLKVP | 4596 |
RYR3 | -----SFND-----EEEEEAMVFFVLQEST>G<YMAPTLRALAIIHTIISLVCVVGYYCLKVP | 4501 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4638S | c.13912G>A | Other Myopathy | rs118192136 | 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 | Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul Disord. 2013 23(3):195-205. doi: 10.1016/j.nmd.2013.01.004. 23394784 | ||||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 | ||||
p.G4638D | c.13913G>A | Other Myopathy | rs118192135 | SIFT: Polyphen: | |
Reports | Other Myopathy | Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul Disord. 2003 13(2):151-7. 12565913 | |||
Other Myopathy | RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. Hum Mutat. 2013 34(7):986-96. doi: 10.1002/humu.22326. 23553787 | ||||
Unknown | Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146 |