Paralogue Annotation for RYR2 residue 3678

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3678
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3678

No paralogue variants have been mapped to residue 3678 for RYR2.

RYR2	-AEPPEEDEGTKRVDPLHQLILLFSRTALT>E<KCKLEEDFLYMAYADIMAKSCHDEED-D--	3705
RYR1	EQEEEEEEVEEKKPDPLHQLVLHFSRTALT>E<KSKLDEDYLYMAYADIMAKSCHLEEGGENG	3742
RYR3	KVEEEEEEETEKQPDPLHQIILYFSRNALT>E<RSKLEDDPLYTSYSSMMAKSCQSGED-E--	3594
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3678D	c.11034G>T	Putative Benign			SIFT: tolerated Polyphen: benign