Paralogue Annotation for RYR2 residue 1858

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1858
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1858

No paralogue variants have been mapped to residue 1858 for RYR2.

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

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1858V	c.5573A>T	Putative Benign			SIFT: Polyphen:
p.E1858G	c.5573A>G	Putative Benign			SIFT: Polyphen: