The infevers autoinflammatory mutation online registry: update with new genes and functions

Florian Milhavet; Laurence Cuisset; Hal M Hoffman; Rima Slim; Hatem El-Shanti; Ivona Aksentijevich; Suzanne Lesage; Hans Waterham; Carol Wise; Cyril Sarrauste de Menthiere; Isabelle Touitou

doi:10.1002/humu.20720

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The infevers autoinflammatory mutation online registry: update with new genes and functions

Journal article

Open access

Peer reviewed

The infevers autoinflammatory mutation online registry: update with new genes and functions

Florian Milhavet, Laurence Cuisset, Hal M Hoffman, Rima Slim, Hatem El-Shanti, Ivona Aksentijevich, Suzanne Lesage, Hans Waterham, Carol Wise, Cyril Sarrauste de Menthiere, …

Human mutation, Vol.29(6), pp.803-808

06/2008

DOI: 10.1002/humu.20720

PMID: 18409191

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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.

Mutation

Registries

User-Computer Interface

Confidentiality

Humans

Familial Mediterranean Fever - genetics

Databases, Genetic

Internet

Details

Title: Subtitle: The infevers autoinflammatory mutation online registry: update with new genes and functions
Creators: Florian Milhavet - Institut de Genetique Humaine, CNRS-UPR1142, Montpellier, France
Laurence Cuisset
Hal M Hoffman
Rima Slim
Hatem El-Shanti
Ivona Aksentijevich
Suzanne Lesage
Hans Waterham
Carol Wise
Cyril Sarrauste de Menthiere
Isabelle Touitou
Resource Type: Journal article
Publication Details: Human mutation, Vol.29(6), pp.803-808
DOI: 10.1002/humu.20720
PMID: 18409191
NLM abbreviation: Hum Mutat
ISSN: 1059-7794
eISSN: 1098-1004
Grant note: R01 AI052430 / NIAID NIH HHS
Language: English
Date published: 06/2008
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984093334602771

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