Paralogue Annotation for RYR2 residue 1769

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1769
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1769

No paralogue variants have been mapped to residue 1769 for RYR2.

RYR2	---ENKKHGLPGIGLSTSLRPRMQFSSPSF>V<SI------SNECYQYSPEFPLDILKSKTIQ	1793
RYR1	TENGHPRHGLPGVGVTTSLRPPHHFSPPCF>V<AALPAAGAAEAPARLSPAIPLEALRDKALR	1813
RYR3	---ESKRHGLPGVGLRTCLKPGFRFSTPCF>V<VT------GEDHQKQSPEIPLESLRTKALS	1697
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1769L	c.5305G>T	Putative Benign			SIFT: Polyphen: