Semin Thromb Hemost 2006; 32(2): 160-168
DOI: 10.1055/s-2006-939772
Copyright © 2006 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

A User's Guide to the Interactive Web Database of Factor H-Associated Hemolytic Uremic Syndrome

Rebecca E. Saunders1 , Stephen J. Perkins1
  • 1Department of Biochemistry and Molecular Biology, Royal Free and University College Medical School, Darwin Building, University College London, London, United Kingdom
Further Information

Publication History

Publication Date:
30 March 2006 (online)

ABSTRACT

Atypical hemolytic uremic syndrome (aHUS) mutations have been reported in the complement regulatory proteins factor H, factor I, and membrane cofactor protein (MCP). Mutations within factor H are also associated with membranoproliferative glomerulonephritis and age-related macular degeneration. The increasing amount of information on aHUS requires organization if it is to be usable. Accordingly, an interactive factor H aHUS Web database has been developed (http://www.fh-hus.org) that integrates genotypic, phenotypic, and structural information for mutations within human factor H. This provides a valuable tool for the interpretation of previously reported aHUS mutations, and provides prediction and analysis tools for new mutations. It will be extended to include mutations in factor I and MCP. Here, we describe how to use this Web database as a research tool, and indicate possible future directions depending on feedback from the clinical community.

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 Professor
Stephen J Perkins

Department of Biochemistry and Molecular Biology, Darwin Building, University College London

Gower Street, London WC1E 6BT, United Kingdom

Email: s.perkins@medsch.ucl.ac.uk

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