Paralogue Annotation for RYR2 residue 3750

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3750
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3750

No paralogue variants have been mapped to residue 3750 for RYR2.

RYR2	EKQKLLYQQARLHDRGAAEMVLQTISASKG>E<TGPMVAATLKLGIAILNGGNSTVQQKMLDY	3780
RYR1	EKQRLLYQQARLHTRGAAEMVLQMISACKG>E<TGAMVSSTLKLGISILNGGNAEVQQKMLDY	3818
RYR3	EKQKTLYQQARLHERGAAEMVLQMISASKG>E<MSPMVVETLKLGIAILNGGNAGVQQKMLDY	3670
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3750D	c.11250A>C	Putative Benign			SIFT: Polyphen: