Paralogue Annotation for RYR1 residue 1878

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1878
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1878

No paralogue variants have been mapped to residue 1878 for RYR1.

RYR1	LLVMGIFGDEDVKQILKMIEPEVFTEEEEE>E<DEEEEGEEEDEEEKEEDEEETAQEKEDEEK	1908
RYR2	LLIMGIFHNEDLKHILQLIEPSVFKEAATP>E<EESDTL--E-K---ELS----VDDAK-LQG	1877
RYR3	LLVMGVFDDDDVRQILLLIDPSVFGEHSAG>T<EEGAEK--E-E---VTQ----VEEKA-VEA	1781
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1878D	c.5634G>C	Benign		rs114203198	SIFT: Polyphen: benign