Paralogue Annotation for RYR1 residue 2939

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2939
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2939

No paralogue variants have been mapped to residue 2939 for RYR1.

RYR1	DTLTAKEKARDREKAQELLKFLQMNGYAVT>R<GLKDMELDSSSIEKRFAFGFLQQLLRWMDI	2969
RYR2	DTLTAKEKAKDREKAQDILKFLQINGYAVS>R<GFKDLELDTPSIEKRFAYSFLQQLIRYVDE	2935
RYR3	DTLTAKEKFKDREKAQDLFKFLQVNGIIVS>R<GMKDMELDASSMEKRFAYKFLKKILKYVDS	2830
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2939K	c.8816G>A	Other Myopathy		rs118192125	SIFT: Polyphen:
Reports		Other Myopathy		Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007 130(Pt 8):2024-36. 17483490
		Unknown		Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
		Other Myopathy		Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2010 20(3):166-73. doi: 10.1016/j.nmd.2009.12.005. 20080402