Paralogue Annotation for RYR2 residue 1752

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1752
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1752

No paralogue variants have been mapped to residue 1752 for RYR2.

RYR2	PMTEETKSITLFPD------ENKKHGLPGI>G<LSTSLRPRMQFSSPSFVSI------SNECY	1776
RYR1	PLTPETRAITLFPPGRSTENGHPRHGLPGV>G<VTTSLRPPHHFSPPCFVAALPAAGAAEAPA	1796
RYR3	PITSTTRNIRLFPD------ESKRHGLPGV>G<LRTCLKPGFRFSTPCFVVT------GEDHQ	1680
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1752S	c.5254G>A	Putative Benign			SIFT: Polyphen: