ADRB2 E27Q - 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 E27Q

(ADRB2 Glu27Gln)


You are viewing an old version of this page that was saved on November 29, 2012 at 4:43am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 3

Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.36);
PolyPhen=benign(0.012);
Condel=neutral(0.304)
Mutation Tasting Prediction: Polymorphism p value: 0.666031; protein features (might be) affected (Detail: aa 1-34 TOPO_DOMAIN Extracellular (potential) gets lost)
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 29.27; Class C25
Multi-alignment of P07550.3 | adrenergic, beta-2-, receptor, surface [Homo sapiens] with: NP_001182193.1 [Pan troglodytes] XP_002816107.1 [Pongo abelii] NP_001036239.1 [Macaca mulatta] XP_002744396.1 [Callithrix jacchus] XP_002710343.1 [Oryctolagus cuniculus] AAM76554.1 [Gorilla gorilla] AAM76553.1 [Pan troglodytes] XP_002918202.1 [Ailuropoda melanoleuca] XP_001503845.1 [Equus caballus] NP_001003234.1 [Canis lupus familiaris]

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

Impact

Insufficiently evaluated pharmacogenetic

(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

  • 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)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr5:148206473

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr5:148206473

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr5:148206473

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr5:148206473

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr5:148206473

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr5:148206473

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom C @ chr5:148206473

 

 

Added in this revision:

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom C @ chr5:148206473

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr5:148206473

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom C @ chr5:148206473

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr5:148206473

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr5:148206473

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr5:148206473

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr5:148206473

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr5:148206473

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom C @ chr5:148206473

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr5:148206473

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom C @ chr5:148206473

 

GS06994 - var-GS06994-1100-36-ASM
hom C @ chr5:148186666

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr5:148186666

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr5:148186666

 

GS18501 - var-GS18501-1100-36-ASM
hom C @ chr5:148186666

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr5:148186666

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr5:148186666

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr5:148186666

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr5:148186666

 

GS18517 - var-GS18517-1100-36-ASM
hom C @ chr5:148186666

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr5:148186666

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr5:148186666

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr5:148186666

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr5:148186666

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr5:148186666

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr5:148186666

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr5:148186666

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr5:148186666

 

GS19025 - var-GS19025-1100-36-ASM
hom C @ chr5:148186666

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr5:148186666

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr5:148186666

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr5:148186666

 

GS19239 - var-GS19239-1100-36-ASM
hom C @ chr5:148186666

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr5:148186666

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr5:148186666

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr5:148186666

 

GS19700 - var-GS19700-1100-36-ASM
hom C @ chr5:148186666

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chr5:148186666

 

GS19704 - var-GS19704-1100-36-ASM
hom C @ chr5:148186666

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr5:148186666

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr5:148186666

 

GS20502 - var-GS20502-1100-36-ASM
hom C @ chr5:148186666

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr5:148186666

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr5:148186666

 

Other external references
 

    dbSNP
  • rs1042714
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [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.
    www.pharmgkb.org/search/annotatedGene/adrb2/
  • [Heart Failure]
    [carvedilol]
    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.
    www.ncbi.nlm.nih.gov/pubmed/12835612; PubMed ID:15861037
  • [Asthma]
    Three recent meta-analyses have shown that the Gln27Glu and Gly16Arg polymorphisms are not associated with asthma.
    www.ncbi.nlm.nih.gov/pubmed/15153795; PubMed ID:15867853; PubMed ID:15987731
    PolyPhen-2
  • 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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