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. 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, affected domain and
- at the clinical level: absence or presence of skeletal, ocular, cardiovascular, central nervous system and other various manifestations.

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To avoid loss of time, you can access the list of all the MUTATIONS and PUBLICATIONS reported in the Marfan Database whithout making a software request. You can export all these data in "Microsoft Excel"® format (for the Mutations) or "MicrosoftWord"® format (for the Publications). See read me file to have the Microsoft Excel"® table legend.

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MUTATIONS:

 The read me file (legend for the Microsoft-Excel format table "Mutation list")
 Mutation list (Each line represents a single FBN1 mutation. Legend is given in the read me file)
 Mutation reference

You wonder if you have found a true mutation or only a POLYMORPHISM ?
 The read me file (legend for the Microsoft-Excel format table "Polymorphism list")
 Polymorphism list (Each line represents a single FBN1 polymorphism. Legend is given in the read me file)
 Polymorphism reference

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Your team's mutations are not in the database and you want them to be included ? You can can enter all the data in the following SUBMISSION sheet and after verification the mutation will be added to the Database.

 Go to Data Submission

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For more information, the database has been published.