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 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

  • 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)





Added in this revision:









Other external references

  • [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.
    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 ...
  • 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 ...
  • 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 ...
  • 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. ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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