Paralogue Annotation for RYR1 residue 1175

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1175
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1175

No paralogue variants have been mapped to residue 1175 for RYR1.

RYR1	GDVVGCMIDLTENTIIFTLNGEVLMSDSGS>E<TAFREIEIGDGFLPVCSLGPGQVGHLNLGQ	1205
RYR2	GDVVGCMVDMNEHTMMFTLNGEILLDDSGS>E<LAFKDFDVGDGFIPVCSLGVAQVGRMNFGK	1219
RYR3	GDVVGCMINLDDASMIFTLNGELLITNKGS>E<LAFADYEIENGFVPICCLGLSQIGRMNLGT	1205
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1175K	c.3523G>A	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. J Med Genet. 2015 52(3):208-16. doi: 10.1136/jmedgenet-2014-102819. 25635128