Paralogue Annotation for RYR2 residue 4451

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4451
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4451

No paralogue variants have been mapped to residue 4451 for RYR2.

RYR2	A---KEEEKEEKEETKSEPEKAEGEDGEKE>E<KAKEDKGKQKLR--------QLHTHRYGEP	4473
RYR1	VEEELPPEPEPEPEPELEPEKADAENGEKE>E<VPEPTPEPPKKQ---------APPSPPPKK	4534
RYR3	A---AEMKAANEAEGKVESEKADMEDGEKE>D<KDKEEEQAEYLWTEVTKKKKRRCGQKVEKP	4384
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4451K	c.13351G>A	Putative Benign			SIFT: Polyphen: