Paralogue Annotation for RYR1 residue 4709

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4709
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4709

No paralogue variants have been mapped to residue 4709 for RYR1.

RYR1	ARKLEFDGLYITEQPEDDDVKGQWDRLVLN>T<PSFPSNYWDKFVKRKVLDKHGDIYGRERIA	4739
RYR2	ARKLEFDGLYITEQPSEDDIKGQWDRLVIN>T<QSFPNNYWDKFVKRKVMDKYGEFYGRDRIS	4667
RYR3	ARKLEFDGLYITEQPSEDDIKGQWDRLVIN>T<PSFPNNYWDKFVKRKVINKYGDLYGAERIA	4572
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T4709M	c.14126C>T	Other Myopathy		rs118192140	SIFT: Polyphen:
Reports		Other Myopathy		Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007 130(Pt 8):2024-36. 17483490
		Other Myopathy		Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265
		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		Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594