Paralogue Annotation for RYR2 residue 879

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 879
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 879

No paralogue variants have been mapped to residue 879 for RYR2.

RYR2	DLLGPTVSLTQAAFTPIPVDTSQIVLPPHL>E<RIREKLAENIHELWVMNKIELGWQYGPVRD	909
RYR1	HLVGPSRCLSHTDFVPCPVDTVQIVLPPHL>E<RIREKLAENIHELWALTRIEQGWTYGPVRD	897
RYR3	DLLGTTQFLSQASFIPCPVDTSQVILPPHL>E<KIRDRLAENIHELWGMNKIELGWTFGKIRD	896
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E879Q	c.2635G>C	Putative Benign			SIFT: tolerated Polyphen: probably damaging