Paralogue Annotation for RYR1 residue 4640

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4640
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4640

No paralogue variants have been mapped to residue 4640 for RYR1.

RYR1	GW-GLGAGEEAEGDEDENMVYYFLEESTGY>M<EPALRCLSLLHTLVAFLCIIGYNCLKVPLV	4670
RYR2	-VTSLDS-----SSHRIIAVHYVLEESSGY>M<EPTLRILAILHTVISFFCIIGYYCLKVPLV	4598
RYR3	---SFND-----EEEEEAMVFFVLQESTGY>M<APTLRALAIIHTIISLVCVVGYYCLKVPLV	4503
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M4640R	c.13919T>G	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease. Neuromuscul Disord. 2013 23(2):120-32. doi: 10.1016/j.nmd.2012.08.007. 23183335
p.M4640V	c.13918A>G	Putative Benign			SIFT: Polyphen: