Paralogue Annotation for RYR2 residue 4197

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4197
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4197

No paralogue variants have been mapped to residue 4197 for RYR2.

RYR2	ESKRQFIFDVVNEGGEKEKMELFVNFCEDT>I<FEMQLAAQISESDLNERSANKEESEK----	4223
RYR1	ESKRQFIFDVVNEGGEAEKMELFVSFCEDT>I<FEMQIAAQISEPEGEPETDEDEGAGAAEAG	4271
RYR3	ESKRQFIFDVVNEGGEQEKMELFVNFCEDT>I<FEMQLASQISESDSADRPEEEEEDEDSSYV	4123
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I4197V	c.12589A>G	Putative Benign			SIFT: Polyphen: