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Related Experiment Videos

Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools.

Rebecca E Saunders1, Niamh M O'Connell, Christine A Lee

  • 1Department of Biochemistry and Molecular Biology, University College London, London, United Kingdom.

Human Mutation
|August 9, 2005
PubMed
Summary
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A new database integrates genetic and phenotypic data for Factor XI (FXI) mutations, aiding understanding of bleeding disorders. This resource aids in interpreting new mutations and assessing bleeding risk factors.

Area of Science:

  • Hematology
  • Genetics
  • Biochemistry

Background:

  • Factor XI (FXI) is crucial for stable fibrin clot formation in blood coagulation.
  • FXI deficiency causes bleeding disorders, but symptoms often lack correlation with FXI coagulant activity (FXI:C).
  • The FXI protein comprises four Apple (Ap) domains and a catalytic serine protease (Sp) domain.

Purpose of the Study:

  • To create an interactive web database consolidating reported mutations in the FXI gene (F11).
  • To integrate phenotypic data (e.g., FXI:C levels) with genetic and structural information for FXI mutations.
  • To facilitate the interpretation of new F11 mutations and enhance understanding of bleeding risk.

Main Methods:

  • Development of an interactive web database (www.FactorXI.org) for FXI gene mutations.

Related Experiment Videos

  • Integration of genetic data, phenotypic information, and structural homology models of FXI domains.
  • Utilization of visualization tools to map mutations onto FXI structural models.

    • Main Results:

    • A central repository of 65 reported F11 mutations is established.
    • The database allows visualization of mutations on FXI domain structures alongside patient data.
    • The platform enables interpretation of novel F11 mutations and their associated FXI:C levels.

    Conclusions:

    • The interactive database provides a comprehensive resource for FXI gene mutations.
    • This tool enhances the comparative understanding of genetic factors influencing bleeding risk.
    • The database facilitates research into the genotype-phenotype correlations in FXI deficiency.