ADRB2 T164I - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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ADRB2 T164I

(ADRB2 Thr164Ile)


You are viewing an old version of this page that was saved on March 16, 2011 at 7:42pm by Madeleine Ball.

Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr5:148206885: 1.1% (118/10758) in EVS
  • T @ chr5:148187077: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.1% (118/10758)

Publications
 

Green SA, Cole G, Jacinto M, Innis M, Liggett SB. A polymorphism of the human beta 2-adrenergic receptor within the fourth transmembrane domain alters ligand binding and functional properties of the receptor. J Biol Chem. 1993 Nov 5;268(31):23116-21. PubMed PMID: 7901205.

 

Added in this revision:

Brodde OE. Beta1- and beta2-adrenoceptor polymorphisms and cardiovascular diseases. Fundam Clin Pharmacol. 2008 Apr;22(2):107-25. Review. PubMed PMID: 18353108.

 

Genomes
 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr5:148206885

 

Other external references
 

    dbSNP
  • rs1800888
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (30 hits -- see all)
  • Haplotype Analysis of the 2 Adrenergic Receptor Gene and Risk ...
    2 adrenergic receptor (ADRB2), in particular G16R, Q27E, and T164I, have ... American men, we evaluated the G16R, Q27E, and T164I polymorphisms among 523 individuals who ...
    www.genetics.org/cgi/reprint/169/3/1583.pdf
  • Haplotype Analysis of the β2 Adrenergic Receptor Gene and ...
    THE β2 adrenergic receptor (ADRB2), a member of the G-protein-coupled receptor ... in ADRB2 have been identified; in particular, G16R, Q27E, and T164I polymorphisms have ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1449541
  • Haplotype Analysis of the {beta}2 Adrenergic Receptor Gene ...
    THE ß2 adrenergic receptor (ADRB2), a member of the G-protein-coupled receptor ... in ADRB2 have been identified; in particular, G16R, Q27E, and T164I polymorphisms have ...
    www.genetics.org/cgi/content/full/169/3/1583
  • Neural Control of Heart Rate Is an Arrhythmia Risk Modifier ...
    Still not a subscriber to JACC Imaging or JACC Interventions? ... The ADRB1-S49G, ADRB1-G389R, ADRB2-R19C, ADRB2-R16G, ADRB2-Q27E, ADRB2-T164I, ADRB3-W64R, and ADRA1A-R492C ...
    content.onlinejacc.org/cgi/content/full/51/9/920
  • Influence of β2-adrenergic receptor (<i>ADRB2</i>) haplotypes ...
    Influence of 2-adrenergic receptor (ADRB2) haplotypes on obesity-related traits and ... p.T164I arose on a haplotype that contained the ancestral p.16G and ...
    www.ashg.org/genetics/abstracts/abs06/f1715.htm
  • Combination Allele-Specific Real-Time PCR for Differentiation ...
    Stimulation of ADRB2 by catecholamines or synthetic therapeutic ... A threonine-to-isoleucine (T164I) substitution in the fourth transmembrane domain alters ligand binding and ...
    www.clinchem.org/cgi/content/full/50/4/769
  • SNPs Identified in ADRB2
    T164I. C/T. G362a24. 742. chr5:148235427. Silent. view. R175R. C/A. G362a25 ... and Genotyping > Candidate Gene List > ADRB2 Main Page > SNPs Identified in ADRB2 ...
    cardiogenomics.med.harvard.edu/.../ADRB2_validated_SNPs.html
  • PLoS ONE: Identification of Novel Single Nucleotide ...
    PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF ... I50V), IL9 (T113M), CCR3 (P39L), ADRB2 (Q27E, and T164I), CTLA4 (318 C>T), NOS2A ...
    plosone.org/article/info:doi/10.1371/journal.pone.0003600
  • Identification of Novel Single Nucleotide Polymorphisms in ...
    Copyright Atik et al. This is an open-access article distributed under the terms of the Creative Commons ... IL9 (T113M), CCR3 (P39L), ADRB2 (Q27E, and T164I), CTLA4 (318 C>T) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2572999
  • errata changed in issue 21
    The sites of the ADRB2 that interact with. the stimulatory G proteins ... ADRB2 expression. and function. In addition, transgenic mice (having the. T164I variant) ...
    www.eh.uc.edu/ceg/pdf/wwinte21.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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