Annotation Detail
Information
- Associated Genes
- IRAK1
- Associated Variants
-
IRAK1 p.Ser532Leu (p.S532L)
(
ENST00000369974.6,
ENST00000369980.8,
ENST00000393687.6,
ENST00000429936.6 )
IRAK1 p.Phe196Ser (p.F196S) ( ENST00000369974.6, ENST00000369980.8, ENST00000393687.6, ENST00000429936.6 )
IRAK1 p.Ser532Leu (p.S532L) ( ENST00000369974.6, ENST00000369980.8, ENST00000393687.6, ENST00000429936.6 )
IRAK1 p.Phe196Ser (p.F196S) ( ENST00000369974.6, ENST00000369980.8, ENST00000393687.6, ENST00000429936.6 ) - Associated Disease
- Septicemia
- Source Database
- DisGeNET
- Description
- We previously described that a commonly occurring IRAK-1 variant haplotype, containing amino acid changes from serine to phenylalanine at position 196 and from leucine to serine at position 532, is associated with increased activation of NF-kappaB in LPS-stimulated neutrophils from patients with sepsis-induced acute lung injury and also higher mortality and more severe clinical outcomes in such patients.
- Pubmed
- 17785851
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2007
Drugs