Paralogue Annotation for RYR2 residue 1754

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1754
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1754

No paralogue variants have been mapped to residue 1754 for RYR2.

RYR2	TEETKSITLFPD------ENKKHGLPGIGL>S<TSLRPRMQFSSPSFVSI------SNECYQY	1778
RYR1	TPETRAITLFPPGRSTENGHPRHGLPGVGV>T<TSLRPPHHFSPPCFVAALPAAGAAEAPARL	1798
RYR3	TSTTRNIRLFPD------ESKRHGLPGVGL>R<TCLKPGFRFSTPCFVVT------GEDHQKQ	1682
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1754T	c.5261G>C	Putative Benign			SIFT: Polyphen:
Reports		Unknown		The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014 Aug;16(8):601-8. 24503780