The UMD- MUTYH mutations database
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Last update 13/02/15

This database includes 1 references and 1767 mutations
( 109 different mutations and 87 proteic variants)
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This database has been compiled to provide information about mutations of the MUTYH gene. It aims at making the information readily accessible to anyone interested in the genetic variations of the MUTYH gene, and to provide an easy way for those who investigate these variations to report their most recent findings. It contains all germline variations found through genetic testing analyses provided by the French MUTYH network of 9 diagnostic laboratories that register up-to-date information about mutations in genes involved in colorectal cancer predisposition. This database currently contain published and unpublished information about the MUTYH variations reported in French diagnostic laboratories.
The databases of MUTYH mutations was built using the "Universal Mutation Database" tool.

For each mutation, information is provided at several levels:
  - at the gene level: exon and codon number, wild type and mutant codon, mutation event, mutation name and,
  - at the protein level: wild type and mutant amino acid, binding domain, affected domain.


Reference
Laboratory name
City
Name
First Name
e-mail
4
Hôpital Edouard Herriot
Lyon
Pinson
Stéphane
7
Institut Paoli-Calmettes
Marseille
Remenieras
Audrey
10
CHU Rennes
Rennes
Blayau
Martine
17
Institut Curie
Saint-Cloud
Rouleau
Etienne
19
CHU Charles Nicolle
Rouen
Tinat
Julie
Baert-Desurmont
Stéphanie
20
Centre Jean Perrin
Clermont-Ferrand
Uhrhammer
Nancy
25
CHU Strasbourg
Strasbourg
Maugard
Christine
33
Groupe Hospitalier Pitié-Salpêtrière
Paris
Coulet
Florence
Colas
Chrystelle
37
CHRU Lille
Lille
Buisine
Marie-Pierre

Data from diagnostic laboratories (blue dots) are sent to Marseille for inclusion and curation into the database. Data from the curation center (red dot) are updated by the Bioinformatics team of INSERM UMR_S910 into the UMD-MUTYH French database (yellow dot). If you want to submit a mutation, please contact S. Olschwang. or P. Grandval.


This work is supported by grants from INCA


The UMD- MUTYH 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.