Varaico: Literature-Extracted Genetic Variants

Gene:TLR2
Variant:p.P681H
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TLR2

NM_001318789.2:p.P681H

Associated Papers

Structural characterization of TIR-domain signalosomes through a combination of structural biology approaches.

Bhatt A et al.

Iucrj, 2024

39190506 (PubMed )
Supplement: m-11-00695-sup1.pdf

TLR2 2029C/T and TLR3 1377C/T and -7C/A Polymorphisms Are Associated with the Occurrence of Abdominal Aortic Aneurysm.

Jabłońska A et al.

Journal of Immunology (baltimore, Md. : 1950), 2020

Probing subtle conformational changes induced by phosphorylation and point mutations in the TIR domains of TLR2 and TLR3.

Mahita J et al.

Proteins, 2018

Investigating the effect of key mutations on the conformational dynamics of toll-like receptor dimers through molecular dynamics simulations and protein structure networks.

Mahita J et al.

Proteins, 2018

Toll-like receptor polymorphisms compromise the inflammatory response against bacterial antigen translocation in cirrhosis.

Piñero P et al.

Scientific Reports, 2017

Conformational dynamics of cancer-associated MyD88-TIR domain mutant L252P (L265P) allosterically tilts the landscape toward homo-dimerization.

Zhan C et al.

Protein Engineering, Design & Selection : Peds, 2016

An alanine-to-proline mutation in the BB-loop of TLR3 Toll/IL-1R domain switches signalling adaptor specificity from TRIF to MyD88.

Verstak B et al.

Journal of Immunology (baltimore, Md. : 1950), 2013

Influence of Toll-like receptor gene polymorphisms to tuberculosis susceptibility in humans.

Thada S et al.

Scandinavian Journal of Immunology, 2013

Toll-like receptor polymorphisms, inflammatory and infectious diseases, allergies, and cancer.

Medvedev AE

Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2013

R753Q polymorphism inhibits Toll-like receptor (TLR) 2 tyrosine phosphorylation, dimerization with TLR6, and recruitment of myeloid differentiation primary response protein 88.

Xiong Y et al.

The Journal of Biological Chemistry, 2012

The structural biology of Toll-like receptors.

Botos I et al.

Structure (london, England : 1993), 2011

Toll-like receptor 2 (P631H) mutant impairs membrane internalization and is a dominant negative allele.

Etokebe GE et al.

Scandinavian Journal of Immunology, 2010

The heterogeneous allelic repertoire of human toll-like receptor (TLR) genes.

Georgel P et al.

Plos One, 2009

TLR2 polymorphisms, Arg753Gln and Arg677Trp, are not associated with increased burden of tuberculosis in Indian patients.

Biswas D et al.

Bmc Research Notes, 2009

Novel mutations in TLR genes cause hyporesponsiveness to Mycobacterium avium subsp. paratuberculosis infection.

Bhide MR et al.

Bmc Genetics, 2009

Toll-like receptors TLR1, TLR2 and TLR4 gene mutations and natural resistance to Mycobacterium avium subsp. paratuberculosis infection in cattle.

Mucha R et al.

Veterinary Immunology and Immunopathology, 2009

Pathogen recognition by Toll-like receptor 2 activates Weibel-Palade body exocytosis in human aortic endothelial cells.

Into T et al.

The Journal of Biological Chemistry, 2007

Structural and functional evidence for the role of the TLR2 DD loop in TLR1/TLR2 heterodimerization and signaling.

Gautam JK et al.

The Journal of Biological Chemistry, 2006

Binding specificity of Toll-like receptor cytoplasmic domains.

Brown V et al.

European Journal of Immunology, 2006

The importance of Toll-like receptor 2 polymorphisms in severe infections.

Texereau J et al.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2005

Toll-like receptor 2 Arg677Trp polymorphism is associated with susceptibility to tuberculosis in Tunisian patients.

Ben-Ali M et al.

Clinical and Diagnostic Laboratory Immunology, 2004

The Arg753GLn polymorphism of the human toll-like receptor 2 gene in tuberculosis disease.

Ogus AC et al.

The European Respiratory Journal, 2004

The interleukin 1 (IL-1) receptor accessory protein Toll/IL-1 receptor domain: analysis of putative interaction sites in vitro mutagenesis and molecular modeling.

Radons J et al.

The Journal of Biological Chemistry, 2003

Cutting edge: a Toll-like receptor 2 polymorphism that is associated with lepromatous leprosy is unable to mediate mycobacterial signaling.

Bochud PY et al.

Journal of Immunology (baltimore, Md. : 1950), 2003

An extensively associated dimer in the structure of the C713S mutant of the TIR domain of human TLR2.

Tao X et al.

Biochemical and Biophysical Research Communications, 2002

Detection of Toll-like receptor 2 (TLR2) mutation in the lepromatous leprosy patients.

Kang TJ et al.

Fems Immunology and Medical Microbiology, 2001

Structural basis for signal transduction by the Toll/interleukin-1 receptor domains.

Xu Y et al.

Nature, 2000

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