Paralogue Annotation for RYR1 residue 4634

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4634
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4634

No paralogue variants have been mapped to residue 4634 for RYR1.

RYR1	GSGGSSGW-GLGAGEEAEGDEDENMVYYFL>E<ESTGYMEPALRCLSLLHTLVAFLCIIGYNC	4664
RYR2	SSENAK-VTSLDS-----SSHRIIAVHYVL>E<ESSGYMEPTLRILAILHTVISFFCIIGYYC	4592
RYR3	WN-------SFND-----EEEEEAMVFFVL>Q<ESTGYMAPTLRALAIIHTIISLVCVVGYYC	4497
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4634K	c.13900G>A	Other Myopathy		rs118192133	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
		Unknown		Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
p.E4634V	c.13901A>T	Putative Benign			SIFT: Polyphen: