Paralogue Annotation for RYR1 residue 4638

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4638
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4638

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
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See full Alignment of Paralogues

Known Variants in RYR1

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