FH aHUS Mutation Database ©
Version History
VersionFirst OnlineDataUpdatesReference
1 Nov 2004 54 CFH genetic alteratiosns
  • First Release
 Saunders et al., 2006
2 June 2006 167 genetic alterations:
100 CFH
43 MCP
24 IF
  • Updated structural analysis for SCR19 and SCR-20 X-ray structures
  • Added MCP and FI mutations
  • Added MCP and FI structural models and analysis
  • Added disease-associated polymorphisms
 Saunders et al., 2007
2.1 Oct 2006 791 genetic alterations:
438 CFH
138 MCP
215 IF
  • Added dbSNP data for CFH, MCP and IF loci
 None

The following people have worked on this project:

  • Miss Rebecca E. Saunders
    Department of Biochemistry and Molecular Biology, University College London, UK
    (Webdatabase concept, design and implementation)
  • Prof Stephen J. Perkins
    Department of Biochemistry and Molecular Biology, University College London, UK
    (Project Supervisor)
The European Working Party on the Genetics of HUS

    The following people have contributed to the database and are part of The European Working Party on the Genetics of HUS:

  • Veronique Fremeaux-Bacchi Service d'Immunologie Biologique, Hopital Europeen Georges Pompidou, Paris
  • Elena Goicoechea de Jorge Departamento de Inmunologia, Centro de Investigaciones Biologicas (CSIC), Madrid
  • Timothy H.J. Goodship Department of Nephrology, University of Newcastle upon Tyne, UK
  • Margarita López Trascasa Inmunología. Hospital Universitario "La Paz", Hospital Infantil. Planta Sótano, Paseo de la Castellan, Madrid
  • Marina Noris Laboratory of Immunology and Genetics of Rare Diseases and Transplantation, Mario Negri Institute for Pharmacological Research Villa Camozzi,Italy
  • Isabel Maria Ponce Castro Inmunología. Hospital Universitario "La Paz", Hospital Infantil. Planta Sótano, Paseo de la Castellan, Madrid
  • Giuseppe Remuzzi Laboratory of Immunology and Genetics of Rare Diseases and Transplantation, Mario Negri Institute for Pharmacological Research Villa Camozzi,Italy
  • Santiago Rodriguez de Cordoba Departamento de Inmunologia, Centro de Investigaciones Biologicas (CSIC), Madrid
  • Pilar Sanchez-Corral Research Unit, Hospital Universitario La Paz, Madrid, Spain
  • Peter F. Zipfel Department of Infection Biology, Hans Knoll Institute for Natural Products Research, Germany
Acknowledgements

We have been able to work on this project supported by grants from the following: