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.
Saunders
Rebecca E
RE
Department of Biochemistry and Molecular Biology, Royal Free and University College Medical School, Darwin Building, University College London, London, United Kingdom.
Perkins
Stephen J
SJ
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