Paralogue Annotation for RYR1 residue 215

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 215
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 215

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	G230C	Catecholaminergic polymorphic ventricular tachycar	High	9	21659649, 23746327, 24025405

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.

RYR1	ELQVDASFMQTLWNMNPICSR--CEEGFVT>G<GHVLRLFHGHMDECLTISPAD-SDDQRRLV	244
RYR2	SLHVDAAFQQTLWSVAPISSGSEAAQGYLI>G<GDVLRLLHGHMDECLTVPSGEHGEEQRRTV	260
RYR3	NIQVDASFMQTLWNVHPTCSGSSIEEGYLL>G<GHVVRLFHGH-DECLTIPSTDQNDSQHRRI	249
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G215E	c.644G>A	Other Myopathy		rs118192115	SIFT: Polyphen:
Reports		Other Myopathy		Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain. 2003 126(Pt 11):2341-9. 12937085
		Other Myopathy		Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface. Nat Commun. 2013 4:1506. doi: 10.1038/ncomms2501. 23422674
		Unknown		Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
		Other Disease Phenotype		Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet. 2014 23(9):2279-89. doi: 10.1093/hmg/ddt618. 24319099