Paralogue Annotation for RYR1 residue 417

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 417
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 417

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	L433P	Arrhythmogenic right ventricular dysplasia type 2	High	5	11159936, 16239587, 22374134, 22828895, 23871484, 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	LSLTRCQQEESQAARMIHSTNGLYNQFIKS>L<DSFSGKPRGSGPPAGTALPIEGVILSLQDL	447
RYR2	ISLSRSQHEESRTARVIRSTVFLFNRFIRG>L<DALSKKAKA----STVDLPIESVSLSLQDL	459
RYR3	LTLQRCQREESQAARIIRNTTALFSQFVSG>N<-----NRTA----APITLPIEEVLQTLQDL	446
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L417P	c.1250T>C	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol. 2011 68(9):1171-9. 21911697