Paralogue Annotation for RYR1 residue 1890

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1890
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1890

No paralogue variants have been mapped to residue 1890 for RYR1.

RYR1	KQILKMIEPEVFTEEEEEEDEEEEGEEEDE>E<EKEEDEEETAQEKEDEEKEEEEAAEGEKEE	1920
RYR2	KHILQLIEPSVFKEAATPEEESDTL--E-K>-<--ELS----VDDAK-LQGAGEE--EAKGGK	1887
RYR3	RQILLLIDPSVFGEHSAGTEEGAEK--E-E>-<--VTQ----VEEKA-VEAG-----EKAGKE	1788
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1890D	c.5670G>T	Putative Benign			SIFT: Polyphen: