Several novel applications are now available through
the "search entire database module".
Provides a complete list of validated (and not confidential) sequence
variants currently recorded in Infevers.
A complete detailed tabular list can also be downloaded as an excel file.
All data can be cross-queried by selecting values in each item. For example
[location:"exon1"] + [alteration: "substitution"]
+ [technique: "sequencing"] extracts the list of sequence variants
matching these 3 parameters among the complete list.
Details on each variant are available as a specific "detailed variant
form" by simply clicking on "see details"
This detailed variant form contains all available information on the variant,
and shows the upstream and downstream 15bp surrounding the first base
mutated (in red).
A schematic figure of the gene, with exons and introns roughly on scale
is provided. The distribution of the sequence variants along the gene
is represented, and the "detailed variant form" is available
by simply clicking on the variant name.
Histograms depicting the current number of sequence variants recorded
in Infevers are provided
per alteration type, location and ancestry . Data are shown as the total
number of sequence variants, or according to the phenotype associated
with the variant (red: number of variants with a defined associated phenotype,
orange: number of variants with unknown phenotype, green: number of variants
with no associated phenotype).
The cDNA sequence and the genomic sequence of the gene are shown.
You can download as a doc file the sequence of gene including 1000 bp
5' and 3' of the gene.
Exons are in upper case, introns are in lower case.
The ATG of the first translated Met codon, and the termination codon are
Note: Any table or illustration
from this module is freely available, however you are kindly requested
to quote Infevers.
The following citation format is appropriate: Infevers: an online database for autoinflammatory mutations. Copyright. Available
at http://fmf.igh.cnrs.fr/ISSAID/infevers/ Accessed (date of access) together with the following references:
Milhavet F, Cuisset L, Hoffman H, El-Shanti H, Slim R, Aksentijevich I, Lesage S, Waterham H, Wise C, Sarrauste de Menthière C, Touitou I.
2008 - Hum Mutat.
Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, Shoham N, Aganna E, Hugot JP, Wise C, Waterham H, Pugnere D, Demaille J, Sarrauste de Menthière C.
2004 - Hum Mutat. 24(3):194-8.
Sarrauste de Menthière C, Terrière S, Pugnère D, Ruiz M, Demaille J, Touitou I.
2003 - Nucleic Acids Res.31(1):282-5.