Paralogue Annotation for RYR1 residue 402

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 402
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 402

No paralogue variants have been mapped to residue 402 for RYR1.

RYR1	KKKAMLHQEGHMDDALSLTRCQQEESQAAR>M<IHSTNGLYNQFIKSLDSFSGKPRGSGPPAG	432
RYR2	QRKAIMHHEGHMDDGISLSRSQHEESRTAR>V<IRSTVFLFNRFIRGLDALSKKAKA----ST	444
RYR3	KRKVILHQEGHMDDGLTLQRCQREESQAAR>I<IRNTTALFSQFVSGN-----NRTA----AP	431
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M402T	c.1205T>C	Other Myopathy		rs118192117	SIFT: Polyphen:
Reports		Other Myopathy		Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007 130(Pt 8):2024-36. 17483490
		Other Myopathy		Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat. 2010 31(7):E1544-50. 20583297
		Unknown		Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
		Unknown		20301436
p.M402V	c.1204A>G	Putative Benign			SIFT: Polyphen: