NOS3 E298D - GET-Evidence

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

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Curation:
Currentness:

NOS3 E298D

(NOS3 Glu298Asp)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (264 hits -- see all)
  • NOS3 polymorphisms, cigarette smoking, and cardiovascular ...
    NOS3 polymorphisms, cigarette smoking, and cardiovascular disease risk. The ... Communities study were genotyped for the T-786C and E298D polymorphisms in NOS3. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1978174
  • Genetic risk factors for diabetic nephropathy on chromosomes ...
    Masaryk University (Brno, Czech Republic) ... C) and 2 SNPs on chromosome 7q (NOS3 774C/T and NOS3 E298D), omnibus p=0.033. Haplotype analysis revealed ...
    www.muni.cz/research/publications/704945
  • Lifestyle and Prevention Community - Fulltext (PDF): Volume ...
    and exon 7 (E298D) of the NO synthase isoform 3 gene affect enzyme ... E298D NOS3 polymorphisms either do not influence NO. function or have differential effects ...
    pt.wkhealth.com/pt/re/dyslipidaemia/...
  • CaRe researchschool
    Finally, we looked at the endothelial nitric oxide (NO) synthase [NOS3 (E298D)] polymorphism due to its possible association with altered NO availability. ...
    www.researchschoolcare.nl/Default.aspx?id=398
  • Endothelial NO Synthase Polymorphisms and Postural ...
    In the gene encoding eNOS, NOS isoform 3 (NOS3), a substitution of Asp for Glu (E298D) in exon 7 and a T to C ... E298D NOS3 polymorphisms, because of their potential to lower ...
    hyper.ahajournals.org/cgi/content/full/46/5/1103
  • GeneCanvas
    NOS3/A+15/in22G. NOS3/A-924G. NOS3/D258D. NOS3/E298D. NOS3/G+11/in23T ... NOS3/T-1474A. NOS3/T-788C. NPPA/V663M. Back to top O. OLR1/+552del/ins. OLR1/+568rpt. OLR1 ...
    genecanvas.idf.inserm.fr/infusions/.../PolymorphismsList.php
  • Journal of Human Hypertension - Abstract of article: The ...
    Journal of Human Hypertension is exclusively concerned with all clinical aspects of human hypertension. The journal publishes fully refereed original research papers ...
    www.nature.com/jhh/journal/v23/n10/abs/jhh20096a.html
  • Access : The contribution of six polymorphisms to ...
    Journal of Human Hypertension is exclusively concerned with all clinical aspects of human ... (A1166C), AGT (M235T), ACE (4656rpt), NOS3 (E298D), GNB3 (C825T) and ADD1 (G460W) ...
    www.nature.com/jhh/journal/v23/n10/full/jhh20096a.html
  • ARS | Publication request: Nos3 Polymorphisms, Cigarette ...
    The endothelial nitric oxide synthase (NOS3) gene is associated with endothelial ... In Caucasians, association between E298D genotype and risk of coronary heart disease was ...
    ars.usda.gov/research/publications/publications.htm?...&pf=1

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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