Paralogue Annotation for RYR1 residue 893

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 893
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 893

No paralogue variants have been mapped to residue 893 for RYR1.

RYR1	PPHLERIREKLAENIHELWALTRIEQGWTY>G<PVRDDNKRLHPCLVDFHSLPEPERNYNLQM	923
RYR2	PPHLERIREKLAENIHELWVMNKIELGWQY>G<PVRDDNKRQHPCLVEFSKLPEQERNYNLQM	935
RYR3	PPHLEKIRDRLAENIHELWGMNKIELGWTF>G<KIRDDNKRQHPCLVEFSKLPETEKNYNLQM	922
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G893S	c.2677G>A	Other Myopathy		rs147336515	SIFT: Polyphen:
Reports		Other Myopathy		Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935
		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
		Other Myopathy		Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594