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.



RYR2TEETKSITLFPD------ENKKHGLPGIGL>S<TSLRPRMQFSSPSFVSI------SNECYQY1778
RYR1TPETRAITLFPPGRSTENGHPRHGLPGVGV>T<TSLRPPHHFSPPCFVAALPAAGAAEAPARL1798
RYR3TSTTRNIRLFPD------ESKRHGLPGVGL>R<TCLKPGFRFSTPCFVVT------GEDHQKQ1682
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S1754Tc.5261G>C Putative BenignSIFT:
Polyphen:
ReportsUnknown The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014 Aug;16(8):601-8. 24503780