NOS3 D298E - GET-Evidence

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

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NOS3 D298E

(NOS3 Asp298Glu)


You are viewing an old version of this page that was saved on February 26, 2010 at 2:53pm by Genome Importing Robot.

Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • G @ chr7:150696111: 74.9% (8047/10742) in EVS
  • G @ chr7:150327043: 79.7% (102/128) in GET-Evidence
  • Frequency shown in summary reports: 74.9% (8047/10742)

Publications
 

Genomes
 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr7:150696111

 

Added in this revision:

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom G @ chr7:150696111

 

NA07022

 

NA12156

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-18

 

snp-2

 

snp-26

 

snp-3

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs1799983
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [cyclophosphamide; doxorubicin; fluorouracil; methotrexate]
    Risk or phenotype-associated allele: T. Phenotype: Women assigned to chemotherapy who had NOS3 −786 CC and 894 TT genotypes had an increased risk of recurrence compared with those with common alleles. Study size: 1153. Study population/ethnicity: Women with Breast Neoplasms receiving CMF (cyclophosphamide, methotrexate and fluorouracil) or CAF (cyclophosphamide, doxorubicin and fluorouracil) adjuvant therapy. Significance metric(s): HR = 2.32 (95% CI, 1.26-4.25); p = 0.008. Type of association: CO.
    www.ncbi.nlm.nih.gov/pubmed/19671875
    Web search results (9 hits -- see all)
  • AceView: Gene:NOS3, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=NOS3
  • SNPs Identified in NOS3
    D298E. T/G. G9847a2. chr7:150089473. Intronic. view. G/A. WIPGA_03_805. chr7:150089974. Intronic ... Candidate Gene List > NOS3 Main Page > SNPs Identified in NOS3 ...
    cardiogenomics.med.harvard.edu/.../NOS3_validated_SNPs.html
  • Physiogenomic analysis links serum creatine kinase activities ...
    oxide synthase 3 (NOS3), physiogenomics, side effects, single ... angiotensin II Type 1 receptor (AGTR1) and nitric oxide synthase 3 (NOS3) genes ...
    illuminakk.co.jp/pdf/ScientificPapers/...
  • SNP Name
    D298E. NOS3. 7. rs2566514. synonymous. 0.91. NOS3. 7. rs3918232. nonsynonymous. V827M. 0.84. NOS3. 7 ... impairment carrying the T variant of the Glu/Asp NOS3 polymorphism. ...
    biomedcentral.com/.../supplementary/1471-2156-8-43-s1.doc
  • Common Variants in Immune and DNA Repair Genes and Risk for ...
    Division of Cancer Epidemiology and Genetics, National Cancer ... NOS3. Nitric oxide synthase 3 (endothelial cell) 7q36. Ex8–63T3G. IVS1–762C3T. D298E. aka -786 ...
    proyectoguanacaste.org/files/.../WangS.pdf
  • Variant name (amino acid change and position for exonic SNPs)
    NOS3 (Nitric oxide. synthase 3) 7. 4. 0.2. 1.3. Produces nitric oxide (NO) ... rs1799983 (D298E) associated (p=0.005) with log creatine kinase levels in 102 patients ...
    ctsu.ox.ac.uk/~search/SEARCH_myopathy_NEJM2008_supapp.pdf
  • Neuro Oncol -- Rajaraman et al. 10 (5): 709 Table BL1
    Enzyme converts hydrogen peroxide to water and oxygen; high-activity –329C allele ... NOS3. Nitric oxide synthase 3. 7q36. Ex8–63T>G (D298E) rs1799983. Enzyme ...
    neuro-oncology.oxfordjournals.org/cgi/content-nw/.../TBL1
  • Physiogenomic Method for Predicting Statin Injury to Muscle ...
    [0060]Two genes, AGTR1 and NOS3, were found in the association tests ... NOS3 was the second ranking gene in our survey, and also very significantly ...
    www.faqs.org/patents/app/20090233299

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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