A user's guide to the interactive Web database of factor H-associated hemolytic uremic syndrome.
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.
Department of Biochemistry and Molecular Biology, Royal Free and University College Medical School, Darwin Building, University College London, London, United Kingdom.
Rebecca E
RE
Saunders
Stephen J
SJ
Perkins
D017242:Complement Factor H / Q000235:genetics*; D016208:Databases, Factual; D006463:Hemolytic-Uremic Syndrome / Q000097:blood* / Q000235:genetics*; D006801:Humans; D020407:Internet; D009154:Mutation
D017242:Complement Factor H