The UMD-FBN1 mutations database

In an effort to standardize the information regarding FBN1 mutations, we have created a computerized database that currently contains information about the published mutations of the fibrillin gene FBN1 and some only reported in meetings proceedings.

In referring to work done using the UDM-FBN1, please cite: Collod-Beroud, G., Le Bourdelles, S., Ades, L., Ala-Kokko, L., Booms, P., Boxer, M., Child, A., Comeglio, P., De Paepe, A., Hyland, J.C., Holman, K., Kaitila, I., Loeys, B., Matyas, G., Nuytinck, L., Peltonen, L., Rantamaki, T., Robinson, P., Steinmann, B., Junien, C., Beroud, C. and Boileau, C. (2003) Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat, 22, 199-208.

In referring to work done using the UMD-Predictor algorithm, please cite: Frederic, M.Y., Lalande, M., Boileau, C., Hamroun, D., Claustres, M., Beroud, C. and Collod-Beroud, G. (2009) UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. Hum Mutat, 30, 952-959

When the same mutation from the same patient was reported in more than one article, only the first report was taken into account.

For each mutation, information is provided at several levels:
     - at the gene level (exon and codon number, wild type and mutant codon, mutational event, mutation name...),
     - at the protein level (wild type and mutant amino acid...),
     - at the clinical level (phenotypic group: allows to distinguish between different disorders linked to FBN1 mutations and when available clinical details are provided.

Please look at “the gene”, “the proteins”, and “the clinics” buttons (left panel).
For mutation details, use tools available via the “Mutations” button.
More than twenty types of analyses can be performed via the “Statistics” button.
The “references” button allows the selection of references included in the UMD-FBN1 database.
You found a mutation and you want to know if it was identified and published elsewhere, please go to “Mutations” button.

Copyright:

The UMD-FBN1 Locus Specific Databases constitute the intellectual property of the curators of the database. Any unauthorized copying, storage or distribution of this material without written permission from the curators would lead to copyright infringement with possible ensuing litigation.

For further details, please refer to Directive 96/9/EC of the European Parliament and of the Council of 11 March 1996 on the legal protection of databases