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The creators of this web page intended to contribute to the achievement of the following goals:

  • To help the collection of information on genetic alterations of the C1 inhibitor (C1INH) gene discovered in several laboratories with different motivations.
  • To create a database where these data can be searched and compared according to several characteristics.
  • To provide additional comprehensive help in the difficult decision that a new mutation may be disease causing or not.
  • To give informative help for research efforts closely or more distantly related to C1INH genetics.
STRUCTURE OF THE C1 INHIBITOR

Beinrohr et al. J. Biol. Chem..2007; 282: 21100-21109
QUICK LINKS
> Graphical database (pdf) <
> Complete list of the mutations in the database <
> Whole database download in tabular format <
> Statistics about the database <


Human C1 inhibitor gene is located in the chromosome 11 (locus 11q11-q13.1) Mutation in the C1NH gene has been shown to cause hereditary angioedema. Alternative titles/symbols: C1I; C1INH; SERPING1.

The mutations/records in the database are maintained by their owners (laboratory which described it first) or the administrator of the database that can avoid wrong, massy, unrelevant information, which are controversial with recent papers.

If you want to submit new mutation as owner, send a short characteristic name for your laboratory (max. 16 characters) to Lajos Kalmár.
If you want to learn on HAE, click here.

If You print the pages of the database, use the landscape orientation in the printer settings!

You can download the whole database in tab-limited text file (which can be opened with programs like Excel) from here.

Grafical Database is available for download in pdf format. It is updated in a week after a new submission.

Current version: 2005.2.0. (evolution of the database)
Last entry submitted: 2013-02-25 (more statistic about HAEdb)

Creators: Lajos Kalmár, Tamás Hegedûs, Attila Tordai

Curators: Lajos Kalmár, Attila Tordai

Publication: Kalmar L, Hegedus T, Farkas H, Nagy M, Tordai A. HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene. Hum Mutat. 2005 Jan;25(1):1-5.

Acknowledgments:
Special thanks to Mario Tosi (University of Rouen) for the inspiration, and professional advices.

Disclaimer: While reasonable effort has been made to ensure that this website is of high quality, the curators make no warranty, express or implied, as to the accuracy of the information or its suitability for any specific purpose. The curators will not be responsible for any consequences arising out of any inaccuracies or omissions, nor be liable for damages, direct or indirect, that result from the use of this website. Users should be very cautious when using this database for diagnostic purposes and/or population screening for several reasons. (1) The phenotype/genotype correlation in most FHC cases is uncertain, (2) the 'mutation' may be a technical artifact, and (3) some of these mutations have not been confirmed by independent research groups.