The F7 mutations database

Last update 18/08/18  

This website gives access to the UMD-F7 database dedicated to the collection of molecular and clinical data related to patients with inherited factor VII (FVII) deficiency (FVII activity levels below 50%). It can be used either by physicians, scientists or students. Only data from published patients are available on line.

Searchable tools (click buttons on the left)

  1. SEARCH: “Type and number of mutation” gives an overview of all reported mutations in the database according to mutation types, “Mutations by exon” allows to access to the list of all reported mutations in a selected exon, “I found a mutation” searches in the database for a specific mutation that you found in order to check if it has been previously reported, and “Free search” gives access to a quick search and an advanced search interface to allow more specific queries.
  2. LARGE LESIONS: six different types of analyses are available to help in deletions and duplications analysis. Results are displayed either as graphics or lists.
  3. SMALL LESIONS: Fifteen types of analyses are available to help in the analysis of nonsense, frameshifting, and splice site mutations of the F7 gene. Results are displayed either as graphics or lists.
  4. THERAPEUTIC APPROACHES: list patients with nonsense mutations that could benefit from nonsense readthrough approaches or other gene-based therapies.
  5. REFERENCE: allows the selection of references included in the UMD-F7 database.


Copyright
The UMD-F7 Locus Specific Databases constitute the intellectual property of the curators of the database. Any unauthorized copying, storage or distribution of this material without written permission from the curators would lead to copyright infringement with possible ensuing litigation. For further details, please refer to Directive 96/9/EC of the European Parliament and of the Council of 11 March 1996 on the legal protection of databases.