Paralogue Annotation for RYR1 residue 1917

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1917
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1917

No paralogue variants have been mapped to residue 1917 for RYR1.

RYR1	EDEEEKEEDEEETAQEKEDEEKEEEEAAEG>E<KEEGLEEGLLQMKLPESVKLQMCHLLEYFC	1947
RYR2	E-K---ELS----VDDAK-LQGAGEE--EA>K<GGKRPKEGLLQMKLPEPVKLQMCLLLQYLC	1914
RYR3	E-E---VTQ----VEEKA-VEAG-----EK>A<GKEAPVKGLLQTRLPESVKLQMCELLSYLC	1815
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1917G	c.5750A>G	Putative Benign		rs201623919	SIFT: Polyphen: benign