Paralogue Annotation for RYR1 residue 2283

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2283
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2283

No paralogue variants have been mapped to residue 2283 for RYR1.

RYR1	YLLENSGIG--L-GMQGSTPLDVAAASVID>N<NELALALQEQDLEKVVSYLAGCGLQSCPML	2313
RYR2	YLLENSSVGLASPAMRGSTPLDVAAASVMD>N<NELALALREPDLEKVVRYLAGCGLQSCQML	2280
RYR3	YLLENSSVGLASPSMRGSTPLDVAASSVMD>N<NELALSLEEPDLEKVVTYLAGCGLQSCPML	2177
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N2283H	c.6847A>C	Other Myopathy		rs118192121	SIFT: Polyphen:
Reports		Other Myopathy		Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet. 2006 15(18):2791-803. 16940308
		Unknown		Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146