Paralogue Annotation for RYR1 residue 2274

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2274
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2274

No paralogue variants have been mapped to residue 2274 for RYR1.

RYR1	QRSMFDHLSYLLENSGIG--L-GMQGSTPL>D<VAAASVIDNNELALALQEQDLEKVVSYLAG	2304
RYR2	QKAMFDHLSYLLENSSVGLASPAMRGSTPL>D<VAAASVMDNNELALALREPDLEKVVRYLAG	2271
RYR3	QKAMFEHLSYLLENSSVGLASPSMRGSTPL>D<VAASSVMDNNELALSLEEPDLEKVVTYLAG	2168
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2274Y	c.6820G>T	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145