Paralogue Annotation for RYR1 residue 4842

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4842
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4842

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	V4771I	Ventricular tachycardia, polymorphic	High	9	12093772, 21292648, 23595086, 24025405, 24136861

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	AHLLDIAMGVKTLRTILSSVTHNGKQLVMT>V<GLLAVVVYLYTVVAFNFFRKFYNKSEDEDE	4872
RYR2	AHLLDIAMGFKTLRTILSSVTHNGKQLVLT>V<GLLAVVVYLYTVVAFNFFRKFYNKSEDGDT	4801
RYR3	AHLLDIAMGFKTLRTILSSVTHNGKQLVLT>V<GLLAVVVYLYTVVAFNFFRKFYNKSEDDDE	4704
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4842M	c.14524G>A	Other Myopathy		rs193922879	SIFT: Polyphen:
Reports		Other Myopathy		Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat. 2008 29(5):670-8. 18253926
		Other Myopathy		RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. Hum Mutat. 2013 34(7):986-96. doi: 10.1002/humu.22326. 23553787
		Unknown		Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381