Paralogue Annotation for RYR2 residue 4194

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4194
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4194

No paralogue variants have been mapped to residue 4194 for RYR2.

RYR2	QVKESKRQFIFDVVNEGGEKEKMELFVNFC>E<DTIFEMQLAAQISESDLNERSANKEESEK-	4223
RYR1	QVKESKRQFIFDVVNEGGEAEKMELFVSFC>E<DTIFEMQIAAQISEPEGEPETDEDEGAGAA	4268
RYR3	QVKESKRQFIFDVVNEGGEQEKMELFVNFC>E<DTIFEMQLASQISESDSADRPEEEEEDEDS	4120
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4194K	c.12580G>A	Putative Benign			SIFT: Polyphen: