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

Research output: Contribution to journalArticle

158 Citations (Scopus)

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 autoinflammatory sequence variants.

Original languageEnglish
Pages (from-to)803-808
Number of pages6
JournalHuman Mutation
Volume29
Issue number6
DOIs
Publication statusPublished - Jun 2008
Externally publishedYes

Fingerprint

Registries
Mutation
Genes
Terminology
Hereditary Autoinflammatory Diseases
Databases
Statistical Data Interpretation
Terminator Codon
Internet
Fever
Nucleotides
Complementary DNA
Color
Alleles
Guidelines
Phenotype

Keywords

  • Autoinflammatory disease
  • Infevers
  • LPIN2
  • MEFV
  • MVK
  • NLRP3
  • NLRP7
  • NOD2
  • PSTPIP1
  • Registry
  • TNFRSF1A

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Milhavet, F., Cuisset, L., Hoffman, H. M., Slim, R., El-Shanti, H., Aksentijevich, I., ... Touitou, I. (2008). The infevers autoinflammatory mutation online registry: Update with new genes and functions. Human Mutation, 29(6), 803-808. https://doi.org/10.1002/humu.20720

The infevers autoinflammatory mutation online registry : Update with new genes and functions. / Milhavet, Florian; Cuisset, Laurence; Hoffman, Hal M.; Slim, Rima; El-Shanti, Hatem; Aksentijevich, Ivona; Lesage, Suzanne; Waterham, Hans; Wise, Carol; De Menthiere, Cyril Sarrauste; Touitou, Isabelle.

In: Human Mutation, Vol. 29, No. 6, 06.2008, p. 803-808.

Research output: Contribution to journalArticle

Milhavet, F, Cuisset, L, Hoffman, HM, Slim, R, El-Shanti, H, Aksentijevich, I, Lesage, S, Waterham, H, Wise, C, De Menthiere, CS & Touitou, I 2008, 'The infevers autoinflammatory mutation online registry: Update with new genes and functions', Human Mutation, vol. 29, no. 6, pp. 803-808. https://doi.org/10.1002/humu.20720
Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I et al. The infevers autoinflammatory mutation online registry: Update with new genes and functions. Human Mutation. 2008 Jun;29(6):803-808. https://doi.org/10.1002/humu.20720
Milhavet, Florian ; Cuisset, Laurence ; Hoffman, Hal M. ; Slim, Rima ; El-Shanti, Hatem ; Aksentijevich, Ivona ; Lesage, Suzanne ; Waterham, Hans ; Wise, Carol ; De Menthiere, Cyril Sarrauste ; Touitou, Isabelle. / The infevers autoinflammatory mutation online registry : Update with new genes and functions. In: Human Mutation. 2008 ; Vol. 29, No. 6. pp. 803-808.
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