chr4:154626317:G>A Detail (hg19) (TLR2)

Information

Genome

Assembly Position
hg19 chr4:154,626,317-154,626,317
hg38 chr4:153,705,165-153,705,165 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001318787.1:c.2258G>A NP_001305716.1:p.Arg753Gln
NM_001318789.1:c.2258G>A NP_001305718.1:p.Arg753Gln
NM_001318790.1:c.2258G>A NP_001305719.1:p.Arg753Gln
Summary

MGeND

Clinical significance not provided
Variant entry
GWAS entry 3,738
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 603028 OMIM
HGNC 11848 HGNC
Ensembl ENSG00000137462 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv19143029 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Alzheimer disease not provided MGS000015
(TMGS000120) 		Hiroshi Mori Osaka City University
not provided mild cognitive impairment not provided MGS000015
(TMGS000120) 		Hiroshi Mori Osaka City University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2012-11-02 no assertion criteria provided Mycobacterium tuberculosis, susceptibility to germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.017 tuberculosis Polymorphisms of the toll-like receptor 2 (TLR2) gene (Arg677Trp, Arg753Gln) and... BeFree 20002809 Detail
0.100 Sepsis Single nucleotide polymorphisms (SNPs) Arg753Gln and Arg677Trp affect TLR2 respo... BeFree 18249133 Detail
0.015 Diabetes Mellitus, Non-Insulin-Dependent In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
<0.001 rheumatic heart disease The lack of genetic association of the Toll-like receptor 2 (TLR2) Arg753Gln and... BeFree 17096074 Detail
0.010 Coronary Arteriosclerosis In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
<0.001 Coronary Arteriosclerosis In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.134 coronary artery disease In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
<0.001 Mycobacterium Infections Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (... BeFree 17855803 Detail
<0.001 Coronary heart disease In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.002 Mycobacterium Infections Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (... BeFree 17855803 Detail
0.006 Cytomegalovirus Infections Relationship between toll-like receptor 2 Arg677Trp and Arg753Gln and toll-like ... BeFree 24813591 Detail
0.001 Septicaemia due to gram-negative organism, unspecified Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (... BeFree 17855803 Detail
0.013 Chronic Obstructive Airway Disease Toll-like receptor 2 gene polymorphisms Arg677Trp and Arg753Gln in chronic obstr... BeFree 19381722 Detail
0.002 Septicaemia due to gram-negative organism, unspecified Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (... BeFree 17855803 Detail
<0.001 acute myocardial infarction TLR2 and age-related diseases: potential effects of Arg753Gln and Arg677Trp poly... BeFree 18442320 Detail
0.008 Coronary heart disease In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.051 tuberculosis Polymorphisms of the toll-like receptor 2 (TLR2) gene (Arg677Trp, Arg753Gln) and... BeFree 20002809 Detail
<0.001 coronary artery disease In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.005 Septicemia Single nucleotide polymorphisms (SNPs) Arg753Gln and Arg677Trp affect TLR2 respo... BeFree 18249133 Detail
0.003 Cytomegalovirus Infections Relationship between toll-like receptor 2 Arg677Trp and Arg753Gln and toll-like ... BeFree 24813591 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.003 obesity In our study, TNF-alpha, soluble TNF receptor 1 (sTNFR1), and soluble TNF recept... BeFree 20357716 Detail
0.015 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
<0.001 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
0.012 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
0.002 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
0.001 Tuberculosis, Pulmonary In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile... BeFree 20797905 Detail
0.089 Lung diseases Variant alleles of polymorphisms of TLR2 rs1898830, rs5743708, and rs3804100 dem... BeFree 23994582 Detail
<0.001 cerebral infarction TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cereb... BeFree 25590839 Detail
0.001 Cerebrovascular accident TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cereb... BeFree 25590839 Detail
0.002 Cerebrovascular accident TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cereb... BeFree 25590839 Detail
0.002 cerebral infarction TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cereb... BeFree 25590839 Detail
0.016 HIV Infections : To analyze the influence of single-nucleotide polymorphisms (SNPs) in TLR2 (18... BeFree 18769358 Detail
<0.001 Latent Tuberculosis In TLR2, the frequencies of the CC genotype (OR = 2.262; 95% CI: 1.433-3.570) an... BeFree 25928077 Detail
0.006 Chlamydia Infections The Arg753Gln TLR2 and Asp299Gly TLR4 polymorphisms were not related to chlamydi... BeFree 15175649 Detail
<0.001 Carotid Atherosclerosis A total of 3000 individuals from the prospective community-based Carotid Atheros... BeFree 17332447 Detail
0.017 periodontitis We screened 197 individuals suffering from generalized periodontitis for the pre... BeFree 15875057 Detail
0.003 familial Mediterranean fever TLR polymorphisms in FMF: association of TLR-2 (Arg753Gln) and TLR-4 (Asp299Gly,... BeFree 20714796 Detail
0.012 Bacterial Infections Polymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are asso... BeFree 16487238 Detail
<0.001 vitiligo Our findings suggest that Toll-like receptor 2 gene Arg753Gln and Toll-like rece... BeFree 22429552 Detail
<0.001 eclampsia Common SNPs of the TLR2 (Arg753Gln) and co-segregating TLR4 (Asp299Gly and Thr39... BeFree 20818954 Detail
<0.001 Severe Sepsis Two common SNPs of the TLR2 and TLR4 genes--Arg753Gln and Asp299Gly--were associ... BeFree 24366499 Detail
0.058 asthma Wherease some previous studies indicated TLRs and their polymorphisms might have... BeFree 25530138 Detail
<0.001 Reactive systemic amyloidosis TLR polymorphisms in FMF: association of TLR-2 (Arg753Gln) and TLR-4 (Asp299Gly,... BeFree 20714796 Detail
0.025 Bacterial Infections Polymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are asso... BeFree 16487238 Detail
<0.001 eclampsia Common SNPs of the TLR2 (Arg753Gln) and co-segregating TLR4 (Asp299Gly and Thr39... BeFree 20818954 Detail
<0.001 osteomyelitis Polymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are asso... BeFree 16487238 Detail
<0.001 Nasopharyngeal carcinoma The aim of this study was to investigate the association of TLR2 R753Q, TLR4 D29... BeFree 22320262 Detail
<0.001 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) Our findings suggest that Toll-like receptor 2 gene Arg753Gln and Toll-like rece... BeFree 22429552 Detail
0.031 periodontitis We screened 197 individuals suffering from generalized periodontitis for the pre... BeFree 15875057 Detail
0.002 Carotid Atherosclerosis A total of 3000 individuals from the prospective community-based Carotid Atheros... BeFree 17332447 Detail
0.004 familial Mediterranean fever TLR polymorphisms in FMF: association of TLR-2 (Arg753Gln) and TLR-4 (Asp299Gly,... BeFree 20714796 Detail
0.003 Chlamydia Infections The Arg753Gln TLR2 and Asp299Gly TLR4 polymorphisms were not related to chlamydi... BeFree 15175649 Detail
<0.001 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) Our findings suggest that Toll-like receptor 2 gene Arg753Gln and Toll-like rece... BeFree 22429552 Detail
<0.001 vitiligo Our findings suggest that Toll-like receptor 2 gene Arg753Gln and Toll-like rece... BeFree 22429552 Detail
0.001 Severe Sepsis Two common SNPs of the TLR2 and TLR4 genes--Arg753Gln and Asp299Gly--were associ... BeFree 24366499 Detail
0.034 asthma Wherease some previous studies indicated TLRs and their polymorphisms might have... BeFree 25530138 Detail
<0.001 leptospirosis Association of Toll-like receptor 2 Arg753Gln and Toll-like receptor 1 Ile602Ser... BeFree 25784560 Detail
0.001 Tuberculosis, Pulmonary The aim of this study was to investigate whether the functional genetic variatio... BeFree 20650298 Detail
0.006 Lyme disease The aim of the present study was to investigate the Arg753Gln single-nucleotide ... BeFree 25784560 Detail
0.010 Lyme disease The aim of the present study was to investigate the Arg753Gln single-nucleotide ... BeFree 25784560 Detail
<0.001 leptospirosis Association of Toll-like receptor 2 Arg753Gln and Toll-like receptor 1 Ile602Ser... BeFree 25784560 Detail
0.015 Tuberculosis, Pulmonary The aim of this study was to investigate whether the functional genetic variatio... BeFree 20650298 Detail
0.001 pneumonia The presence of the TLR2 Arg753Gln polymorphism was significantly associated wit... BeFree 25427560 Detail
<0.001 Alzheimer's disease Expression of CD86 was higher upon N-palmitoyl-S-[2,3-bis(palmitoyl)-(2RS)-propy... BeFree 19849713 Detail
0.120 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) NA CLINVAR Detail
<0.001 Eczema Dysregulation of CD36 upon TLR-2 stimulation in monocytes from patients with ato... BeFree 19849713 Detail
<0.001 Staphylococcus aureus infection To investigate a putative link between genetically determined variations in Toll... BeFree 15539529 Detail
<0.001 ulcerative colitis The relevance of the observed functional effect of TLR2 in regulating GC is conf... BeFree 19303021 Detail
0.006 Lyme disease These data suggest that Arg753Gln may protect from the development of late stage... BeFree 16081826 Detail
<0.001 Gram positive sepsis In conclusion, TLR2 SNP Arg753Gln results in altered cytokine release in respons... BeFree 18249133 Detail
0.009 urinary tract infection Association of TLR2 gene Arg753Gln polymorphism with urinary tract infection in ... BeFree 18001294 Detail
0.024 Dermatitis, Atopic The Toll-like receptor 2 R753Q mutation modifies cytokine production and Toll-li... BeFree 18234309 Detail
<0.001 rheumatic heart disease No association of the TLR2 gene Arg753Gln polymorphism with rheumatic heart dise... BeFree 19693643 Detail
<0.001 Dermatitis, Atopic Dysregulation of CD36 upon TLR-2 stimulation in monocytes from patients with ato... BeFree 19849713 Detail
<0.001 Inflammatory disorder Arg753Gln TLR-2 polymorphism in familial mediterranean fever: linking the enviro... BeFree 17013994 Detail
0.004 Acne Vulgaris Association study of tumor necrosis factor receptor type 2 M196R and toll-like r... BeFree 20861605 Detail
0.051 tuberculosis The Arg753Gln polymorphism in TLR-2 leads to a weaker response against the M. tu... BeFree 18507196 Detail
0.006 rheumatic fever TLR-2 gene Arg753Gln polymorphism is strongly associated with acute rheumatic fe... BeFree 15968536 Detail
0.004 Eczema Dysregulation of CD36 upon TLR-2 stimulation in monocytes from patients with ato... BeFree 19849713 Detail
0.010 Lyme disease Heterozygous Arg753Gln polymorphism of human TLR-2 impairs immune activation by ... BeFree 16081826 Detail
0.024 Dermatitis, Atopic Dysregulation of CD36 upon TLR-2 stimulation in monocytes from patients with ato... BeFree 19849713 Detail
0.004 Eczema Dysregulation of toll-like receptor-2 (TLR-2)-induced effects in monocytes from ... BeFree 18445187 Detail
0.009 Behcet Syndrome No association of the TLR2 gene Arg753Gln polymorphism with rheumatic heart dise... BeFree 19693643 Detail
<0.001 Reactive systemic amyloidosis We investigated whether the Arg753Gln TLR2 polymorphism affected the development... BeFree 17013994 Detail
<0.001 Tuberculosis, extrapulmonary Our data suggest that the Arg753Gln polymorphism of the TLR-2 gene influences th... BeFree 21320563 Detail
0.004 arthritis In contrast, compared with normal controls, one of the rare TLR-2 SNPs (rs574370... BeFree 18975326 Detail
0.051 tuberculosis The Arg753GLn polymorphism of the human toll-like receptor 2 gene in tuberculosi... BeFree 14979495 Detail
0.007 Hepatitis C, Chronic Individuals with the R753Q single-nucleotide polymorphism (SNP) in the TLR2 gene... BeFree 20090572 Detail
<0.001 acne Association study of tumor necrosis factor receptor type 2 M196R and toll-like r... BeFree 20861605 Detail
0.012 ulcerative colitis The relevance of the observed functional effect of TLR2 in regulating GC is conf... BeFree 19303021 Detail
0.125 Staphylococcal Infections Because the 753Q TLR2 variant may predispose to staphylococcal infection, we sim... BeFree 20109309 Detail
0.004 Eczema The Toll-like receptor 2 R753Q mutation modifies cytokine production and Toll-li... BeFree 18234309 Detail
<0.001 Rheumatic fever in children TLR-2 gene Arg753Gln polymorphism is strongly associated with acute rheumatic fe... BeFree 15968536 Detail
0.024 Dermatitis, Atopic Dysregulation of toll-like receptor-2 (TLR-2)-induced effects in monocytes from ... BeFree 18445187 Detail
0.003 Acne Vulgaris Association study of tumor necrosis factor receptor type 2 M196R and toll-like r... BeFree 20861605 Detail
0.004 familial Mediterranean fever HSP is seen more frequently in patients with familial Mediterranean fever in whi... BeFree 19597734 Detail
0.006 rheumatic fever Toll-like receptor 2 (TLR2) has been known to recognize several microbial antige... BeFree 19693643 Detail
0.009 Behcet Syndrome Toll-like receptor 2 Arg753Gln gene polymorphism in Turkish patients with Behçet... BeFree 16901312 Detail
0.005 Chronic Periodontitis TLR2 Arg753Gln polymorphism may not be associated with aggressive or chronic per... BeFree 18618036 Detail
0.051 tuberculosis Arg753Gln polymorphism of the human Toll-like receptor 2 gene from infection to ... BeFree 21320563 Detail
<0.001 Candida sepsis Pathogen specific cytokine release reveals an effect of TLR2 Arg753Gln during Ca... BeFree 18249133 Detail
0.002 acne Association study of tumor necrosis factor receptor type 2 M196R and toll-like r... BeFree 20861605 Detail
<0.001 Pneumonitis The presence of the TLR2 Arg753Gln polymorphism was significantly associated wit... BeFree 25427560 Detail
0.004 familial Mediterranean fever Arg753Gln TLR-2 polymorphism in familial mediterranean fever: linking the enviro... BeFree 17013994 Detail
<0.001 Prosthetic joint infection However, TLR2 R753Q SNP was not significantly associated with the risk or outcom... BeFree 20937339 Detail
0.007 hepatitis C R753Q single-nucleotide polymorphism impairs toll-like receptor 2 recognition of... BeFree 20090572 Detail
0.007 Hepatitis C, Chronic Ninety-two liver transplant recipients with chronic hepatitis C were screened fo... BeFree 17443468 Detail
0.001 Leishmaniasis, Cutaneous Lack of association of Toll-Like Receptor 2 Arg753Gln with cutaneous leishmanias... BeFree 20388552 Detail
<0.001 Acne Vulgaris The 196R allele of TNFR2 M196R as well as the 753Gln allele of TLR2 Arg753Gln ar... BeFree 20861605 Detail
<0.001 acne The 196R allele of TNFR2 M196R as well as the 753Gln allele of TLR2 Arg753Gln ar... BeFree 20861605 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001318789.2(TLR2):c.2258G>A (p.Arg753Gln) AND Mycobacterium tuberculosis, susceptibility to ClinVar Detail
Polymorphisms of the toll-like receptor 2 (TLR2) gene (Arg677Trp, Arg753Gln) and the TLR4 gene (Asp2... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) Arg753Gln and Arg677Trp affect TLR2 responsiveness and may co... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
The lack of genetic association of the Toll-like receptor 2 (TLR2) Arg753Gln and Arg677Trp polymorph... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (Arg677Trp and Arg753... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (Arg677Trp and Arg753... DisGeNET Detail
Relationship between toll-like receptor 2 Arg677Trp and Arg753Gln and toll-like receptor 4 Asp299Gly... DisGeNET Detail
Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (Arg677Trp and Arg753... DisGeNET Detail
Toll-like receptor 2 gene polymorphisms Arg677Trp and Arg753Gln in chronic obstructive pulmonary dis... DisGeNET Detail
Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (Arg677Trp and Arg753... DisGeNET Detail
TLR2 and age-related diseases: potential effects of Arg753Gln and Arg677Trp polymorphisms in acute m... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
Polymorphisms of the toll-like receptor 2 (TLR2) gene (Arg677Trp, Arg753Gln) and the TLR4 gene (Asp2... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) Arg753Gln and Arg677Trp affect TLR2 responsiveness and may co... DisGeNET Detail
Relationship between toll-like receptor 2 Arg677Trp and Arg753Gln and toll-like receptor 4 Asp299Gly... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
In our study, TNF-alpha, soluble TNF receptor 1 (sTNFR1), and soluble TNF receptor 2 (sTNFR2) levels... DisGeNET Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
In the present study, we investigated whether variants in the TLR-1 1805T/G (Ile602Ser), TLR-2 2258G... DisGeNET Detail
Variant alleles of polymorphisms of TLR2 rs1898830, rs5743708, and rs3804100 demonstrated a consiste... DisGeNET Detail
TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cerebral infarction in th... DisGeNET Detail
TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cerebral infarction in th... DisGeNET Detail
TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cerebral infarction in th... DisGeNET Detail
TLR4 rs1927911, but not TLR2 rs5743708, is associated with atherosclerotic cerebral infarction in th... DisGeNET Detail
: To analyze the influence of single-nucleotide polymorphisms (SNPs) in TLR2 (1892A/C and 2258G/A), ... DisGeNET Detail
In TLR2, the frequencies of the CC genotype (OR = 2.262; 95% CI: 1.433-3.570) and C allele (OR = 1.5... DisGeNET Detail
The Arg753Gln TLR2 and Asp299Gly TLR4 polymorphisms were not related to chlamydial infection. DisGeNET Detail
A total of 3000 individuals from the prospective community-based Carotid Atherosclerosis Progression... DisGeNET Detail
We screened 197 individuals suffering from generalized periodontitis for the presence of Asp299Gly a... DisGeNET Detail
TLR polymorphisms in FMF: association of TLR-2 (Arg753Gln) and TLR-4 (Asp299Gly, Thre399Ile) polymor... DisGeNET Detail
Polymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are associated with bacteria... DisGeNET Detail
Our findings suggest that Toll-like receptor 2 gene Arg753Gln and Toll-like receptor 4 Asp299Gly gen... DisGeNET Detail
Common SNPs of the TLR2 (Arg753Gln) and co-segregating TLR4 (Asp299Gly and Thr399Ile) genes were scr... DisGeNET Detail
Two common SNPs of the TLR2 and TLR4 genes--Arg753Gln and Asp299Gly--were associated with a shorter ... DisGeNET Detail
Wherease some previous studies indicated TLRs and their polymorphisms might have some role in asthma... DisGeNET Detail
TLR polymorphisms in FMF: association of TLR-2 (Arg753Gln) and TLR-4 (Asp299Gly, Thre399Ile) polymor... DisGeNET Detail
Polymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are associated with bacteria... DisGeNET Detail
Common SNPs of the TLR2 (Arg753Gln) and co-segregating TLR4 (Asp299Gly and Thr399Ile) genes were scr... DisGeNET Detail
Polymorphisms in TLR2 (Arg753Gln) and TLR4 (Asp299Gly, Thr399Ile) genes are associated with bacteria... DisGeNET Detail
The aim of this study was to investigate the association of TLR2 R753Q, TLR4 D299G, and T399I polymo... DisGeNET Detail
Our findings suggest that Toll-like receptor 2 gene Arg753Gln and Toll-like receptor 4 Asp299Gly gen... DisGeNET Detail
We screened 197 individuals suffering from generalized periodontitis for the presence of Asp299Gly a... DisGeNET Detail
A total of 3000 individuals from the prospective community-based Carotid Atherosclerosis Progression... DisGeNET Detail
TLR polymorphisms in FMF: association of TLR-2 (Arg753Gln) and TLR-4 (Asp299Gly, Thre399Ile) polymor... DisGeNET Detail
The Arg753Gln TLR2 and Asp299Gly TLR4 polymorphisms were not related to chlamydial infection. DisGeNET Detail
Our findings suggest that Toll-like receptor 2 gene Arg753Gln and Toll-like receptor 4 Asp299Gly gen... DisGeNET Detail
Our findings suggest that Toll-like receptor 2 gene Arg753Gln and Toll-like receptor 4 Asp299Gly gen... DisGeNET Detail
Two common SNPs of the TLR2 and TLR4 genes--Arg753Gln and Asp299Gly--were associated with a shorter ... DisGeNET Detail
Wherease some previous studies indicated TLRs and their polymorphisms might have some role in asthma... DisGeNET Detail
Association of Toll-like receptor 2 Arg753Gln and Toll-like receptor 1 Ile602Ser single-nucleotide p... DisGeNET Detail
The aim of this study was to investigate whether the functional genetic variations at position 1805 ... DisGeNET Detail
The aim of the present study was to investigate the Arg753Gln single-nucleotide polymorphism (SNP) o... DisGeNET Detail
The aim of the present study was to investigate the Arg753Gln single-nucleotide polymorphism (SNP) o... DisGeNET Detail
Association of Toll-like receptor 2 Arg753Gln and Toll-like receptor 1 Ile602Ser single-nucleotide p... DisGeNET Detail
The aim of this study was to investigate whether the functional genetic variations at position 1805 ... DisGeNET Detail
The presence of the TLR2 Arg753Gln polymorphism was significantly associated with pneumonia in AML p... DisGeNET Detail
Expression of CD86 was higher upon N-palmitoyl-S-[2,3-bis(palmitoyl)-(2RS)-propyl]-(R)cysteinyl-alan... DisGeNET Detail
NA DisGeNET Detail
Dysregulation of CD36 upon TLR-2 stimulation in monocytes from patients with atopic dermatitis and t... DisGeNET Detail
To investigate a putative link between genetically determined variations in Toll-like receptor 2 (TL... DisGeNET Detail
The relevance of the observed functional effect of TLR2 in regulating GC is confirmed by the finding... DisGeNET Detail
These data suggest that Arg753Gln may protect from the development of late stage LD due to a reduced... DisGeNET Detail
In conclusion, TLR2 SNP Arg753Gln results in altered cytokine release in response to Candida but not... DisGeNET Detail
Association of TLR2 gene Arg753Gln polymorphism with urinary tract infection in children. DisGeNET Detail
The Toll-like receptor 2 R753Q mutation modifies cytokine production and Toll-like receptor expressi... DisGeNET Detail
No association of the TLR2 gene Arg753Gln polymorphism with rheumatic heart disease and Behçet's dis... DisGeNET Detail
Dysregulation of CD36 upon TLR-2 stimulation in monocytes from patients with atopic dermatitis and t... DisGeNET Detail
Arg753Gln TLR-2 polymorphism in familial mediterranean fever: linking the environment to the phenoty... DisGeNET Detail
Association study of tumor necrosis factor receptor type 2 M196R and toll-like receptor 2 Arg753Gln ... DisGeNET Detail
The Arg753Gln polymorphism in TLR-2 leads to a weaker response against the M. tuberculosis. DisGeNET Detail
TLR-2 gene Arg753Gln polymorphism is strongly associated with acute rheumatic fever in children. DisGeNET Detail
Dysregulation of CD36 upon TLR-2 stimulation in monocytes from patients with atopic dermatitis and t... DisGeNET Detail
Heterozygous Arg753Gln polymorphism of human TLR-2 impairs immune activation by Borrelia burgdorferi... DisGeNET Detail
Dysregulation of CD36 upon TLR-2 stimulation in monocytes from patients with atopic dermatitis and t... DisGeNET Detail
Dysregulation of toll-like receptor-2 (TLR-2)-induced effects in monocytes from patients with atopic... DisGeNET Detail
No association of the TLR2 gene Arg753Gln polymorphism with rheumatic heart disease and Behçet's dis... DisGeNET Detail
We investigated whether the Arg753Gln TLR2 polymorphism affected the development of secondary amyloi... DisGeNET Detail
Our data suggest that the Arg753Gln polymorphism of the TLR-2 gene influences the speed of progressi... DisGeNET Detail
In contrast, compared with normal controls, one of the rare TLR-2 SNPs (rs5743708, R753Q) was associ... DisGeNET Detail
The Arg753GLn polymorphism of the human toll-like receptor 2 gene in tuberculosis disease. DisGeNET Detail
Individuals with the R753Q single-nucleotide polymorphism (SNP) in the TLR2 gene have increased the ... DisGeNET Detail
Association study of tumor necrosis factor receptor type 2 M196R and toll-like receptor 2 Arg753Gln ... DisGeNET Detail
The relevance of the observed functional effect of TLR2 in regulating GC is confirmed by the finding... DisGeNET Detail
Because the 753Q TLR2 variant may predispose to staphylococcal infection, we simultaneously analyzed... DisGeNET Detail
The Toll-like receptor 2 R753Q mutation modifies cytokine production and Toll-like receptor expressi... DisGeNET Detail
TLR-2 gene Arg753Gln polymorphism is strongly associated with acute rheumatic fever in children. DisGeNET Detail
Dysregulation of toll-like receptor-2 (TLR-2)-induced effects in monocytes from patients with atopic... DisGeNET Detail
Association study of tumor necrosis factor receptor type 2 M196R and toll-like receptor 2 Arg753Gln ... DisGeNET Detail
HSP is seen more frequently in patients with familial Mediterranean fever in which TLR-2 Arg753Gln p... DisGeNET Detail
Toll-like receptor 2 (TLR2) has been known to recognize several microbial antigens including that of... DisGeNET Detail
Toll-like receptor 2 Arg753Gln gene polymorphism in Turkish patients with Behçet's disease. DisGeNET Detail
TLR2 Arg753Gln polymorphism may not be associated with aggressive or chronic periodontitis in the Ch... DisGeNET Detail
Arg753Gln polymorphism of the human Toll-like receptor 2 gene from infection to disease in pediatric... DisGeNET Detail
Pathogen specific cytokine release reveals an effect of TLR2 Arg753Gln during Candida sepsis in huma... DisGeNET Detail
Association study of tumor necrosis factor receptor type 2 M196R and toll-like receptor 2 Arg753Gln ... DisGeNET Detail
The presence of the TLR2 Arg753Gln polymorphism was significantly associated with pneumonia in AML p... DisGeNET Detail
Arg753Gln TLR-2 polymorphism in familial mediterranean fever: linking the environment to the phenoty... DisGeNET Detail
However, TLR2 R753Q SNP was not significantly associated with the risk or outcome of PJI due to S au... DisGeNET Detail
R753Q single-nucleotide polymorphism impairs toll-like receptor 2 recognition of hepatitis C virus c... DisGeNET Detail
Ninety-two liver transplant recipients with chronic hepatitis C were screened for the presence of th... DisGeNET Detail
Lack of association of Toll-Like Receptor 2 Arg753Gln with cutaneous leishmaniasis. DisGeNET Detail
The 196R allele of TNFR2 M196R as well as the 753Gln allele of TLR2 Arg753Gln are risk factors for a... DisGeNET Detail
The 196R allele of TNFR2 M196R as well as the 753Gln allele of TLR2 Arg753Gln are risk factors for a... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs5743708 dbSNP
Genome
hg19
Position
chr4:154,626,317-154,626,317
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
76.41
Standard deviation of sample read depth (HGVD)
35.69
Number of reference allele (HGVD)
2419
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1322314049586776E-4
Gene Symbol (HGVD)
TLR2
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs5743708
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3110700254217703E-4
Chromosome Counts in All Race (ExAC)
121066
Allele Counts in All Race (ExAC)
2091
Heterozygous Counts in All Race (ExAC)
2023
Homozygous Counts in All Race (ExAC)
34
Allele Frequency in All Race (ExAC)
0.017271570878694267
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