Paralogue Annotation for RYR2 residue 3683

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3683
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3683

No paralogue variants have been mapped to residue 3683 for RYR2.

RYR2	EEDEGTKRVDPLHQLILLFSRTALTEKCKL>E<EDFLYMAYADIMAKSCHDEED-D--DGEEE	3710
RYR1	EEEVEEKKPDPLHQLVLHFSRTALTEKSKL>D<EDYLYMAYADIMAKSCHLEEGGENGEAEEE	3747
RYR3	EEEETEKQPDPLHQIILYFSRNALTERSKL>E<DDPLYTSYSSMMAKSCQSGED-E--EEDED	3599
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3683K	c.11047G>A	Putative Benign			SIFT: Polyphen: