Skip to main page content
Accesskeys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_003264.5(TLR2):c.2258G>A (p.Arg753Gln)

Help
Interpretation:
risk factor​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 18, 2013)
Last evaluated:
Nov 2, 2012
Accession:
VCV000040869.1
Variation ID:
40869
Description:
single nucleotide variant
Help

NM_003264.5(TLR2):c.2258G>A (p.Arg753Gln)

Allele ID
49355
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q31.3
Genomic location
4: 153705165 (GRCh38) GRCh38 UCSC
4: 154626317 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.154626317G>A
NC_000004.12:g.153705165G>A
NM_001318787.2:c.2258G>A NP_001305716.1:p.Arg753Gln missense
... more HGVS
Protein change
R753Q
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00679 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02222
The Genome Aggregation Database (gnomAD), exomes 0.01743
The Genome Aggregation Database (gnomAD) 0.02326
Exome Aggregation Consortium (ExAC) 0.01727
1000 Genomes Project 0.00679
Trans-Omics for Precision Medicine (TOPMed) 0.01657
Links
OMIM: 603028.0003
dbSNP: rs5743708
UniProtKB: O60603#VAR_031237
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
risk factor 1 no assertion criteria provided Nov 2, 2012 RCV000033853.4
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TLR2 - - GRCh38
GRCh37
6 32

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
risk factor
(Nov 02, 2012)
no assertion criteria provided
Method: literature only
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
Allele origin: germline
OMIM
Accession: SCV000057758.2
Submitted: (Mar 18, 2013)
Evidence details
Publications
PubMed (3)

Citations for this variant

Title Author Journal Year Link
R753Q polymorphism inhibits Toll-like receptor (TLR) 2 tyrosine phosphorylation, dimerization with TLR6, and recruitment of myeloid differentiation primary response protein 88. Xiong Y The Journal of biological chemistry 2012 PMID: 22992740
Heterozygous Arg753Gln polymorphism of human TLR-2 impairs immune activation by Borrelia burgdorferi and protects from late stage Lyme disease. Schröder NW Journal of immunology (Baltimore, Md. : 1950) 2005 PMID: 16081826
The Arg753GLn polymorphism of the human toll-like receptor 2 gene in tuberculosis disease. Ogus AC The European respiratory journal 2004 PMID: 14979495

Record last updated Aug 30, 2019