The USH3A mutations database

Last update 13/10/09

This database includes 13 references and 157 mutations

( 15 different mutations and 14 proteic variants)


Database content :

The database contains all the variants published as pathogenic mutations in the international literature up to November 2007. In addition, unpublished Usher mutations and non-pathogenic variants from the laboratory of Montpellier have been included.
When the same mutation from the same patient was reported in more than one article, only the first report was taken into account.
Information is provided for each variant at nucleotide and protein level with regard to disease (Usher, deafness, retinitis pigmentosa) and phenotypic group (USH1, USH2, USH3, Atypical, non syndromic dominant or recessive) details.

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

Database curation :

This database was initiated and is curated by the Usher group from Montpellier.

Mutation submission :

You are highly encouraged to submit any mutation identified in a patient. You can download the genotype form. Once filled in, you can email it.
Our aim is to avoid any patient redundancy, however, if you notice any redundancy in patients, or any data error, please notify it to us.

The UMD-
USH3A 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.