Paralogue Annotation for RYR2 residue 873

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 873
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 873

No paralogue variants have been mapped to residue 873 for RYR2.

RYR2	ERTYTRDLLGPTVSLTQAAFTPIPVDTSQI>V<LPPHLERIREKLAENIHELWVMNKIELGWQ	903
RYR1	EGPRGPHLVGPSRCLSHTDFVPCPVDTVQI>V<LPPHLERIREKLAENIHELWALTRIEQGWT	891
RYR3	DADGIRDLLGTTQFLSQASFIPCPVDTSQV>I<LPPHLEKIRDRLAENIHELWGMNKIELGWT	890
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V873M	c.2617G>A	Putative Benign		rs369248015	SIFT: deleterious Polyphen: possibly damaging