Paralogue Annotation for RYR2 residue 4195

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4195
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4195

No paralogue variants have been mapped to residue 4195 for RYR2.

RYR2	VKESKRQFIFDVVNEGGEKEKMELFVNFCE>D<TIFEMQLAAQISESDLNERSANKEESEK--	4223
RYR1	VKESKRQFIFDVVNEGGEAEKMELFVSFCE>D<TIFEMQIAAQISEPEGEPETDEDEGAGAAE	4269
RYR3	VKESKRQFIFDVVNEGGEQEKMELFVNFCE>D<TIFEMQLASQISESDSADRPEEEEEDEDSS	4121
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Asp4195Asn	c.12583G>A	Unknown			SIFT: Polyphen: