Paralogue Annotation for RYR1 residue 427

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 427
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 427

No paralogue variants have been mapped to residue 427 for RYR1.

RYR1	SQAARMIHSTNGLYNQFIKSLDSFSGKPRG>S<GPPAGTALPIEGVILSLQDLIIYFEPPSED	457
RYR2	SRTARVIRSTVFLFNRFIRGLDALSKKAKA>-<---STVDLPIESVSLSLQDLIGYFHPPDEH	469
RYR3	SQAARIIRNTTALFSQFVSGN-----NRTA>-<---APITLPIEEVLQTLQDLIAYFQPPEEE	456
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S427L	c.1280C>T	Other Myopathy		rs118192118	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