Paralogue Annotation for RYR2 residue 3733

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3733
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3733

No paralogue variants have been mapped to residue 3733 for RYR2.

RYR2	--DGEEE-VKSFEEKEMEKQKLLYQQARLH>D<RGAAEMVLQTISASKGETGPMVAATLKLGI	3763
RYR1	NGEAEEEVEVSFEEKQMEKQRLLYQQARLH>T<RGAAEMVLQMISACKGETGAMVSSTLKLGI	3801
RYR3	--EEDEDKEKTFEEKEMEKQKTLYQQARLH>E<RGAAEMVLQMISASKGEMSPMVVETLKLGI	3653
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3733N	c.11197G>A	Putative Benign			SIFT: Polyphen: