Paralogue Annotation for RYR1 residue 1920

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1920
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1920

No paralogue variants have been mapped to residue 1920 for RYR1.

RYR1	EEKEEDEEETAQEKEDEEKEEEEAAEGEKE>E<GLEEGLLQMKLPESVKLQMCHLLEYFCDQE	1950
RYR2	---ELS----VDDAK-LQGAGEE--EAKGG>K<RPKEGLLQMKLPEPVKLQMCLLLQYLCDCQ	1917
RYR3	---VTQ----VEEKA-VEAG-----EKAGK>E<APVKGLLQTRLPESVKLQMCELLSYLCDCE	1818
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1920G	c.5759A>G	Putative Benign			SIFT: Polyphen:
p.E1920D	c.5760A>C	Putative Benign			SIFT: Polyphen: