title: UMD-CFTR: a database dedicated to CF and CFTR-related disorders.
abstract: With the increasing knowledge of cystic fibrosis (CF) and CFTR-related diseases (CFTR-RD), the number of sequence variations in the CFTR gene is constantly raising. CF and particularly CFTR-RD provide a particular challenge because of many unclassified variants and identical genotypes associated with different phenotypes. Using the Universal Mutation Database (UMD) software we have constructed UMD-CFTR (freely available at the URL: http://www.umd.be/CFTR/), the first comprehensive relational CFTR database that allows an in-depth analysis and annotation of all variations identified in individuals whose CFTR genes have been analyzed extensively. The system has been tested on the molecular data from 757 patients (540 CF and 217 CBAVD) including disease-causing, unclassified, and nonpathogenic alterations (301 different sequence variations) representing 3,973 entries. Tools are provided to assess the pathogenicity of mutations. UMD-CFTR also offers a number of query tools and graphical views providing instant access to the list of mutations, their frequencies, positions and predicted consequences, or correlations between genotypes, haplotypes, and phenotypes. UMD-CFTR offers a way to compile not only disease-causing genotypes but also haplotypes. It will help the CFTR scientific and medical communities to improve sequence variation interpretation, evaluate the putative influence of haplotypes on mutations, and correlate molecular data with phenotypes.
authors.affiliation: CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier, F-34000 France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Bareil
authors.forename: Corinne
authors.initials: C
authors.lastname: Thèze
authors.forename: Christophe
authors.initials: C
authors.lastname: Béroud
authors.forename: Dalil
authors.initials: D
authors.lastname: Hamroun
authors.forename: Caroline
authors.initials: C
authors.lastname: Guittard
authors.forename: Céline
authors.initials: C
authors.lastname: René
authors.forename: Damien
authors.initials: D
authors.lastname: Paulet
authors.forename: Marie des
authors.initials: Md
authors.lastname: Georges
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
mesh_terms: D000483:Alleles; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D030541:Databases, Genetic; D005091:Exons / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation / Q000235:genetics*
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator