The UMD- EMD mutations database
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This database has been compiled to provide up-to-date information about mutations of the EMD gene. It aims at making the information readily accessible to anyone interested in the genetic variations of the EMD gene, and to provide an easy way for those who investigate these variations to report their most recent findings. It has been initiated in the context of the European Myo-Cluster/Euromen project (Merlini. Neuromusc Disord. 2001;11(1): 102).

The EMD mutations database was developed using the ‘Universal Mutation Database’ tool.  In an attempt to standardize the numbering system used to describe EMD (former STA) mutations, all mutations, which have been previously reported in Yates database using the numbering scheme of  Bione et al, 1994 have been renumbered. Amino acid positions are now derived from the International numbering system using only the coding sequence with the first ATG as amino acid 1 and A from ATG as nucleotide 1. Mutations previously reported in the Yates database are now reported in UMD-EMD database.

The database of EMD mutations was developed using the ‘Universal Mutation Database’ tool.
It contains all published mutations localized in the coding region (exons) and at the intronic borders (splicing sites area) of the EMD gene. Note that the database contains information on the probands as well as their relatives. All statistical analyses will be performed only on published data. Be aware that the analysis can be performed either on all entries or only on probands. "Proband-Relative (Y/N)" function within the "mutation search" tool (standart or customised search sections) can be used either with all mutated subjects or with the probands only.

When the same mutation from the same patient was reported in more than one article, only the first report was taken into account. In such cases, the subsequent reports are indicated within the attached comment to keep track of the redunduncy.

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 the large number of different disorders linked to LMNA mutations; and when available clinical details are provided, i.e. onset status, current skeletal and heart muscles status with the corresponding severities, other features ….).

The list of mutations was collated from the Yates database, published articles and abstracts, from presentations at meetings, and from personal communications. If you use these data, please refer in your publications to UMD-EMD at www.umd.be until full publication of this database.

Please look at “the gene”, “the proteins”, and “the clinics” buttons (left panel) for further details on EMD, Emerin as well as Emerinopathies.

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-EMD database.

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

Submission of new EMD mutation: Together with the genetic details of the mutation, we also provide, when available, detailed clinical data of each individual carrying a EMD mutation, using a clinical form “MyoCluster form”.

Please contact Gisèle Bonne.

Redundancy control : UMD-EMD database curators tried to avoid any patient redundancy. The crosschecking procedures are based on the patients and families codes and ages appearing in the corresponding publications. If any redundancy has not been taken into account by the curators, please notify it to Gisèle Bonne  or Rabah Ben Yaou.

Copyright.
The UMD-EMD 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.