title: The infevers autoinflammatory mutation online registry: update with new genes and functions.
abstract: Infevers (Internet Fevers; http://fmf.igh.cnrs.fr/ISSAID/infevers), a website dedicated to mutations responsible for hereditary autoinflammatory diseases, was created in 2002 and has continued to evolve. This new version includes eight genes; six were already present: MEFV, MVK, TNFRSF1A, NLRP3, NOD2, PSTPIP1, and two are new, LPIN2 and NLRP7. Currently, Infevers contains over 540 sequence variants. Several new database functions were recently instituted. The website now accepts confidential data and complex alleles. For each gene, a newly created menu offers: 1) a tabular list of the variants that can be sorted by several parameters; 2) a gene graph providing a schematic representation of the variants along the gene; 3) statistical analysis of the data according to the phenotype, alteration type, and location of the mutation in the gene; 4) the cDNA and gDNA sequences of each gene, showing the nucleotide changes along the sequence, with a color-based code highlighting the gene domains, the first ATG, and the termination codon; and 5) a "download" menu making all tables and figures available for the users, which, except for the gene graphs, are all automatically generated and updated upon submission of the variants. Finally, the entire database was curated to comply with the HUGO Gene Nomenclature Committee (HGNC) and HGVS nomenclature guidelines, and wherever necessary, an informative note was provided. Infevers has already proven useful for the scientific community with a mean number of visits per month of 200 in 2002 and 800 in 2007, and its new design will lead to a more comprehensive comparative analysis and interpretation of auto-inflammatory sequence variants.
authors.affiliation: Institut de Genetique Humaine, CNRS-UPR1142, Montpellier, France.
authors.forename: Florian
authors.initials: F
authors.lastname: Milhavet
authors.forename: Laurence
authors.initials: L
authors.lastname: Cuisset
authors.forename: Hal M
authors.initials: HM
authors.lastname: Hoffman
authors.forename: Rima
authors.initials: R
authors.lastname: Slim
authors.forename: Hatem
authors.initials: H
authors.lastname: El-Shanti
authors.forename: Ivona
authors.initials: I
authors.lastname: Aksentijevich
authors.forename: Suzanne
authors.initials: S
authors.lastname: Lesage
authors.forename: Hans
authors.initials: H
authors.lastname: Waterham
authors.forename: Carol
authors.initials: C
authors.lastname: Wise
authors.forename: Cyril
authors.initials: C
authors.lastname: Sarrauste de Menthiere
authors.forename: Isabelle
authors.initials: I
authors.lastname: Touitou
mesh_terms: D003219:Confidentiality; D030541:Databases, Genetic; D010505:Familial Mediterranean Fever / Q000235:genetics*; D006801:Humans; D020407:Internet; D009154:Mutation; D012042:Registries; D014584:User-Computer Interface