Paralogue Annotation for RYR1 residue 763

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 763
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 763

No paralogue variants have been mapped to residue 763 for RYR1.

RYR1	GQHLLAPEDVISCCLDLSVPSISFRINGCP>V<QGVFESFNLDGLFFPVVSFSAGVKVRFLLG	793
RYR2	NQHLLRTDDVISCCLDLSAPSISFRINGQP>V<QGMFENFNIDGLFFPVVSFSAGIKVRFLLG	805
RYR3	NQHLLRSDDVVSCCLDLGVPSISFRINGQP>V<QGMFENFNTDGLFFPVMSFSAGVKVRFLMG	792
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V763L	c.2287G>T	Putative Benign		rs369947687	SIFT: deleterious Polyphen: probably damaging
p.V763M	c.2287G>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