The UMD-LMNA mutations database
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Last update: 31/07/2012

This database includes 311 references and 2251 subjects, among which 1786 were published

( 464 different mutations and 283 variants)


This database has been compiled to provide up-to-date information about mutations of the LMNA gene. It aims at making the information readily accessible to anyone interested in the genetic variations of the LMNA 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 database of LMNA 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 LMNA 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 ….). Note that the current clinical data are mainly focused on the striated muscles, respiratory and lipodystrophic features.

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 your publications to UMD-LMNA 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 LMNA, Lamins A/C and Laminopathies.

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

Please contact Gisèle Bonne.

Redundancy control : UMD-LMNA 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. Authors are highly encouraged to use clear identifiers to indicate patients and their families (avoid identifiers such as patient or case...). The same indentifiers should be used if published in more than one paper. 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-LMNA 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