Paralogue Annotation for RYR2 residue 1865

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1865
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1865

No paralogue variants have been mapped to residue 1865 for RYR2.

RYR2	EDLKHILQLIEPSVFKEAATPEEESDTL-->E<-K---ELS----VDDAK-LQGAGEE--EAK	1884
RYR1	EDVKQILKMIEPEVFTEEEEEEDEEEEGEE>E<DEEEKEEDEEETAQEKEDEEKEEEEAAEGE	1917
RYR3	DDVRQILLLIDPSVFGEHSAGTEEGAEK-->E<-E---VTQ----VEEKA-VEAG-----EKA	1785
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1865K	c.5593G>A	Putative Benign			SIFT: tolerated Polyphen: benign