The UMD-TGFBR1 mutations database

Last update 4/09/14

This database includes 19 references and 123 mutations

(46 different mutations and 40 proteic variants)

This database has been compiled to provide up-to-date information about mutations of the TGFBR1 gene. It aims at making the information readily accessible to anyone interested in the genetic variations of the TGFBR1 gene, and to provide an easy way for those who investigate these variations to report their most recent findings.

The database of TGFBR1 mutations was developed using the ‘Universal Mutation Database’ tool. It contains all mutations localized in the coding region (exons) and in the intronic borders (splicing sites area) of the TGFBR1 gene.

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 TGFBR1 mutations and when available clinical details are provided.

The list of mutations was collated from published articles and abstracts, from presentations at meetings, and from personal communications. If you use these data, please refer in our publication.

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-TGFBR1 database.

You found a mutation and you want to know if it was identified and published elsewhere, please go to “Mutations” button.

The UMD-TGFBR1 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.