NM_002188.2(IL13):c.431A>G (p.Gln144Arg)

NM_002188.2(IL13):c.431A>G (p.Gln144Arg)

Variant type:
single nucleotide variant
Cytogenetic location:
5q31.1
Genomic location:
  • Chr5:132660272 (on Assembly GRCh38)
  • Chr5:131995964 (on Assembly GRCh37)
Protein change:
R130Q, Q144R
HGVS:
  • NG_012090.1:g.7100A>G
  • NM_002188.2:c.431A>G
  • NC_000005.10:g.132660272A>G (GRCh38)
  • NP_002179.2:p.Gln144Arg
  • NC_000005.9:g.131995964A>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs20541
Molecular consequence:
NM_002188.2:c.431A>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.81270 (G)
  • GMAF 0.27000 (A)

Clinical significance

NM_002188.2(IL13):c.431A>G (p.Gln144Arg)

Clinical significance:
risk factor
Review status:
1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
2
Condition(s)
  • Asthma, susceptibility to[MedGen - OMIM]
  • Allergic rhinitis, susceptibility to
See supporting ClinVar records

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Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
risk factor
(Apr 27, 2011)
classified by single submitter
(literature only)
literature onlygermlinePubMed (5)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000036052
risk factor
(Apr 27, 2011)
classified by single submitter
(literature only)
literature only
  • Allergic rhinitis, susceptibility to
germlinePubMed (5)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000036053

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

Heinzmann et al. (2000) determined that R130Q variant of IL13, which they referred to as R110Q, associated with asthma in case-control populations from Britain and Japan (peak odds ratio (OR) = 2.31, 95% confidence interval, 1.33 - 4.00); the variant also predicted asthma and higher serum IL13 levels in a general, Japanese pediatric population. Chen et al. (2004) noted that R110Q numbering does not include a 20-amino acid signal sequence and that the R110Q variant has been referred to as R130Q. Immunohistochemistry demonstrated that both subunits of IL13R are prominently expressed in bronchial epithelium and smooth muscle from asthmatic subjects. Detailed molecular modeling analyses indicated that residue 110 of IL13 is important in the internal constitution of the ligand and crucial in ligand-receptor interaction.
Hiromatsu et al. (2005) noted that the R130Q amino acid substitution arises from a G-to-A transition at nucleotide 2044 (G2044A) in exon 4 of the IL13 gene.
In Chinese adult patients with allergic rhinitis (607154), Wang et al. (2003) found a significant association of the IL13 arg130-to-gln (R130Q) SNP, but not of the IL13 promoter -1112C-T SNP (147683.0001), with serum total IgE levels. Patients with a gln/gln genotype showed much higher serum total IgE than those with an arg/arg genotype.
Vladich et al. (2005) examined the impact of the IL13 R130Q variant on the functional properties of IL13 by comparing the activity of the variant to wildtype IL13 on primary effector cells of human allergic inflammation. IL13 R130Q was significantly more active than wildtype IL13 in multiple effector assays and was neutralized less effectively by an IL13R-alpha-2 decoy. Vladich et al. (2005) suggested that natural variation in the coding region of IL13 may be an important genetic determinant of susceptibility to allergy.

Last Updated: May 18, 2015