LOVD DES homepage

General information
Gene name desmin
Gene symbol DES
Chromosome Location 2q35
Database location MingQi_Lab
Curator Ming Qi, PhD, FACMG and Peikuan Cong
Database reference for citations Pan M et al, 2011 Zhang T et al, 2010
PubMed references View all (unique) PubMed references in the DES database
Date of creation April 18, 2013
Last update May 17, 2013
Version DES130517
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008043.1
Transcript refseq ID NM_001927.3
Total number of unique DNA variants reported 53
Total number of individuals with variant(s) 36
Total number of variants reported 64
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NOTE This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]
Also known as: CSM1; CSM2

Graphical displays and utilities
Summary tables Summary of all sequence variants in the DES database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the DES database, without patient data
Complete sequence variant listing Listing of all sequence variants in the DES database
Variants with no known pathogenicity Listing of all DES variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Homepage http://www.genomed.org/lovd2/home.php?select_db=DES
HGNC 2770
Entrez Gene 1674
OMIM - Gene 125660
OMIM - Disease #1 myopathy myofibrillar type 1 (MFM1)
OMIM - Disease #2 cardiomyopathy dilated type 1I (CMD1I)
OMIM - Disease #3 neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome)
UniProtKB (SwissProt/TrEMBL) P17661
HGMD DES
GeneCards DES
GeneTests DES
External link #1 Intermediate Filament
External link #2 ARVD/C Genetic Variants Database
External link #3 DES

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2018. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.