Paralogue Annotation for RYR2 residue 1859

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1859
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1859

No paralogue variants have been mapped to residue 1859 for RYR2.

RYR2	LIMGIFHNEDLKHILQLIEPSVFKEAATPE>E<ESDTL--E-K---ELS----VDDAK-LQGA	1878
RYR1	LVMGIFGDEDVKQILKMIEPEVFTEEEEEE>D<EEEEGEEEDEEEKEEDEEETAQEKEDEEKE	1909
RYR3	LVMGVFDDDDVRQILLLIDPSVFGEHSAGT>E<EGAEK--E-E---VTQ----VEEKA-VEAG	1782
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1859K	c.5575G>A	Putative Benign			SIFT: Polyphen: