ADRB2 E27Q - GET-Evidence

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

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(ADRB2 Glu27Gln)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

Short summary


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


Insufficiently evaluated not reviewed

(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

  • C @ chr5:148206473: 66.1% (7115/10758) in EVS
  • C @ chr5:148186665: 65.6% (80/122) in GET-Evidence
  • Frequency shown in summary reports: 66.1% (7115/10758)



Added in this revision:



Other external references

  • [Asthma; Heart Diseases]
    This variant has been studied in terms of asthma and its drug response and in terms of heart disease and vascular phenotypes and their drug responses.
  • [Heart Failure]
    Heart failure patients homozygous for Gln27 were less likely to have improved left ventricular ejection fraction after carvedilol treatment compared to Glu27 carriers. However, in another study of heart failure patients, Gln27Glu polymorphism was not associated with the improvement of left ventricular ejection fraction or decrease in heart rate due to a beta blocker in stable congestive heart failure.; PubMed ID:15861037
  • [Asthma]
    Three recent meta-analyses have shown that the Gln27Glu and Gly16Arg polymorphisms are not associated with asthma.; PubMed ID:15867853; PubMed ID:15987731
  • Score: 0.001 (benign)

Other in silico analyses

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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