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URL: http://fmf.igh.cnrs.fr/ISSAID/infevers
Proper Citation: INFEVERS (RRID:SCR_007738)
Description: Registry for Familial Mediterranean Fever (FMF) and hereditary inflammatory disorders mutations. As of 2014, it includes twenty genes including: MEFV, MVK, TNFRSF1A, NLRP3, NOD2, PSTPIP1, LPIN2 and NLRP7, and contains over 1338 sequence variants. Confidential data, simple and complex alleles are accepted. For each gene, a 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. 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.
Abbreviations: Infevers
Synonyms: Internet Fevers
Resource Type: data or information resource, storage service resource, service resource, data set, data repository
Defining Citation: PMID:18409191, PMID:15300846, PMID:12520003
Keywords: sequence variant, mutation, allele, genetics, dna, rna, protein, disease, heredity, inflammation, gene, function, phenotype, complex allele, simple allele, exon, intron, cdna sequence, genomic sequence, gdna, FASEB list
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