Paralogue Annotation for RYR1 residue 933

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 933
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 933

No paralogue variants have been mapped to residue 933 for RYR1.

RYR1	HPCLVDFHSLPEPERNYNLQMSGETLKTLL>A<LGCHVGMADEKAEDNLKKTKLPKTYMMSNG	963
RYR2	HPCLVEFSKLPEQERNYNLQMSLETLKTLL>A<LGCHVGISDEHAEDKVKKMKLPKNYQLTSG	975
RYR3	HPCLVEFSKLPETEKNYNLQMSTETLKTLL>A<LGCHIAHVNPAAEEDLKKVKLPKNYMMSNG	962
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A933T	c.2797G>A	Other Myopathy		rs148623597	SIFT: Polyphen:
Reports		Other Myopathy		The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. Clin Genet. 2009 76(6):564-8. 19807743
		Other Myopathy		Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113
		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