Paralogue Annotation for RYR1 residue 1869

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1869
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1869

No paralogue variants have been mapped to residue 1869 for RYR1.

RYR1	VPVLKLVSTLLVMGIFGDEDVKQILKMIEP>E<VFTEEEEEEDEEEEGEEEDEEEKEEDEEET	1899
RYR2	VPLIKLFYTLLIMGIFHNEDLKHILQLIEP>S<VFKEAATPEEESDTL--E-K---ELS----	1869
RYR3	VPVLKLIGTLLVMGVFDDDDVRQILLLIDP>S<VFGEHSAGTEEGAEK--E-E---VTQ----	1773
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1869V	c.5606A>T	Putative Benign			SIFT: Polyphen: