ADRB2 G16R - GET-Evidence

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

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(ADRB2 Gly16Arg)

Short summary


Variant evidence
Computational 5

PolyPhen: Possibly damaging 0.269
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 125.13; Class C65
Variant Effect Predictor (Ensembl ):
Mutation Tasting Prediction: Polymorphism, P value: 0. 715412 (aa 1-34 TOPO_DOM Extracellular gets lost; aa 15-15 CARBOHYD N-linked (GlcNAc…) might get lost (downstream of altered splice site)

Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pharmacogenetic

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr5:148206440: 41.3% (4445/10758) in EVS
  • A @ chr5:148186632: 39.1% (50/128) in GET-Evidence
  • Frequency shown in summary reports: 41.3% (4445/10758)


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PubMed PMID: 7915137


Dishy V, Sofowora GG, Xie HG, Kim RB, Byrne DW, Stein CM, Wood AJ. The effect of common polymorphisms of the beta2-adrenergic receptor on agonist-mediated vascular desensitization. N Engl J Med. 2001 Oct 4;345(14):1030-5. PubMed PMID: 11586955.


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PubMed PMID: 15500895


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PubMed PMID: 18615004



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr5:148206440


hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr5:148206440


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr5:148206440


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr5:148206440


hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr5:148206440



hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr5:148206440



hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr5:148206440



hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr5:148206440


hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr5:148206440


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr5:148206440


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr5:148206440




hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr5:148206440


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr5:148206440



huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom A @ chr5:148206440


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr5:148206440


huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr5:148206440


huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr5:148206440


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr5:148206440


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr5:148206440


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr5:148206440


GS10851 - var-GS10851-1100-36-ASM
het A @ chr5:148186633


GS18501 - var-GS18501-1100-36-ASM
het A @ chr5:148186633


GS18502 - var-GS18502-1100-36-ASM
het A @ chr5:148186633


GS18504 - var-GS18504-1100-36-ASM
het A @ chr5:148186633


GS18508 - var-GS18508-1100-36-ASM
het A @ chr5:148186633


GS18517 - var-GS18517-1100-36-ASM
het A @ chr5:148186633


GS18526 - var-GS18526-1100-36-ASM
hom A @ chr5:148186633


GS18537 - var-GS18537-1100-36-ASM
hom A @ chr5:148186633


GS18555 - var-GS18555-1100-36-ASM
het A @ chr5:148186633


GS18558 - var-GS18558-1100-36-ASM
het A @ chr5:148186633


GS18947 - var-GS18947-1100-36-ASM
het A @ chr5:148186633


GS19017 - var-GS19017-1100-36-ASM
het A @ chr5:148186633


GS19025 - var-GS19025-1100-36-ASM
het A @ chr5:148186633


GS19129 - var-GS19129-1100-36-ASM
het A @ chr5:148186633


GS19239 - var-GS19239-1100-36-ASM
hom A @ chr5:148186633


GS19240 - var-GS19240-1100-36-ASM
het A @ chr5:148186633


GS19649 - var-GS19649-1100-36-ASM
hom A @ chr5:148186633


GS19669 - var-GS19669-1100-36-ASM
het A @ chr5:148186633


GS19700 - var-GS19700-1100-36-ASM
hom A @ chr5:148186633


GS19701 - var-GS19701-1100-36-ASM
hom A @ chr5:148186633


GS19703 - var-GS19703-1100-36-ASM
hom A @ chr5:148186633


GS19704 - var-GS19704-1100-36-ASM
hom A @ chr5:148186633


GS19735 - var-GS19735-1100-36-ASM
hom A @ chr5:148186633


GS19834 - var-GS19834-1100-36-ASM
het A @ chr5:148186633


GS20502 - var-GS20502-1100-36-ASM
hom A @ chr5:148186633


Other external references

  • rs1042713
  • [Coronary Artery Disease; Death; Hypertension; Myocardial Infarction; Stroke]
    [atenolol; verapamil]
    None of the ADRB2 haplotypes tested that contained this SNP were associated with differential primary outcome (i.e., the first incidence of death, nonfatal myocardial infarction, or nonfatal stroke) in hypertensive patients with coronary artery disease.
  • [Asthma]
    Subjects who are homozygous for Arg16 and who were on regular albuterol treatment were reported to have lower morning peak flows compared with those who were not on regular albuterol treatment, suggesting that regular albuterol therapy may not be appropriate for Arg16 homozygous subjects.
  • [Stress]
    In healthy subjects, the Arg16 variant was associated with enhanced isoproterenol-mediated desensitization of the vasculature and enhanced isoproterenol induced-venodilation, suggesting that it may be an important determinant of the vascular response to stress.
  • Gly16 receptor had an enhanced agonist-promoted downregulation relative to Arg16 in in vitro studies using chinese hamster fibroblasts with expressed ADRB2.
  • Score: 0.001 (benign)
    Web search results (161 hits -- see all)
  • JACC -- Sehnert et al. 0 (2008): j.jacc.2008.05.022v1 Table BL6
    Table 6 Results of Genetic Studies in Beta-Blocker–Treated Heart ... ADRB2 G16R. ADRB2 Q27E. ADRA2C Del322-325. ADRB1 49/389 SR, SG, GR. ADRB2 16/27 RQ, GE, GQ ...
  • Lack of Association Between Adrenergic Receptor Genotypes and ...
    Still not a subscriber to JACC Imaging or JACC Interventions? ... ADRB2 G16R. ADRB2 Q27E. ADRA2C Del322-325. ADRB1 49/389 SR, SG, GR. ADRB2 16/27 RQ, GE, GQ ...
  • OIII-B-1
    G16R, Q27E, C523A. Logistic regression was performed to model. the number of drugs taken ... ADRB2 haplotype may have a significant effect on risk for heart ...
  • GeneCanvas
    The nomenclature system used for polymorphisms is the following : Polymorphisms in the 5' ... ADRB2/G16R. ADRB2/Q27E. ADRB2/T-20C. ADRB2/T-47C (C19R of leader cistron) ...
  • 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 ...
  • Haplotype Analysis of the β2 Adrenergic Receptor Gene and ...
    THE β2 adrenergic receptor (ADRB2), a member of the G-protein-coupled receptor ... of polymorphisms in ADRB2 have been identified; in particular, G16R, Q27E, and T164I ...
  • Haplotype Analysis of the {beta}2 Adrenergic Receptor Gene ...
    THE ß2 adrenergic receptor (ADRB2), a member of the G-protein-coupled receptor ... of polymorphisms in ADRB2 have been identified; in particular, G16R, Q27E, and T164I ...
  • CARDIODX™ - Publications
    CardioDx is a cardiovascular genomic diagnostics company that provides cardiologists with ... Genotypes and haplotypes of ADRB1, ADRB2, and ADRA2C did not significantly affect ...
  • Influence of β2-adrenergic receptor (<i>ADRB2</i>) haplotypes ...
    Influence of 2-adrenergic receptor (ADRB2) haplotypes on obesity-related traits and ... Three polymorphisms were investigated, p.G16R (c.46G>A), p.E27Q (c. ...
  • Lack of association between genotypes or haplotypes of ADRB2 ...
    Our objective was to investigate ADRB2 variants for association with juvenile ... of glycine to arginine at position 16 (G16R), and of glutamine to glutamic acid at ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

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Gene search

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