rs5743311
This is a synonymous variant in the TLR3 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
Herpes simplex encephalitis, susceptibility to, 1 (IIAE1); TLR3-related disorder
View on ClinVar →▶Research that mentions this SNP (1)
▶Correlation between TLR2,TLR3,TLR4, and TLR9 polymorphisms and susceptibility to and prognosis of severe hepatitis among the newbornsAssociationN=275Xiao Qiu et al.(2018)· Journal of Clinical Laboratory Analysis
This case-control study investigated the association between TLR2, TLR3, TLR4, and TLR9 polymorphisms and susceptibility to and prognosis of severe hepatitis among 135 newborn cases and 140 healthy controls of Chinese Han ethnicity. Certain SNPs were associated with disease risk and prognosis, including rs1898830 (TLR2; OR=0.38 for favorable prognosis in AG carriers), rs1879026 (TLR3; OR=0.29 for GT carriers), and rs187084 and rs352139 (TLR9). The haplotype A-C-G-G-C-A-T showed increased susceptibility (OR=4.11), while this haplotype was associated with favorable prognosis when present.
About TLR3
The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It thus plays a role in host defense against multiple viruses. [provided by RefSeq, Jul 2021]
View all TLR3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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