DES gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
General information
Gene symbol DES
Gene name desmin
Chromosome 2
Chromosomal band q35
Imprinted Not imprinted
Genomic reference NG_008043.1
Transcript reference NM_001927.3
Exon/intron information NM_001927.3 exon/intron table
Associated with diseases CMD-1I, LGMD-2R, MFM-1, SCPNK
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Andreas Brodehl and Johan den Dunnen
Total number of public variants reported 324
Unique public DNA variants reported 152
Individuals with public variants 376
Hidden variants 106
Notes This database is one of the gene variant databases from the:Please note that for this gene nearly all data are still in the LMDp database.
NOTE: we gratefully acknowledge the Hogeschool Leiden, in particular students
Joyce Harteveld and Yvonne Tiersma, for valuable help establishing this database. Data from the Cardiff HGMD DES database were used as a starting point to establish this database.
Date created April 01, 2008
Date last updated December 07, 2018
Version DES:181207

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001927.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/DES
HGNC 2770
Entrez Gene 1674
PubMed articles DES
OMIM - Gene 125660
OMIM - Diseases CMD-1I (cardiomyopathy, dilated, type 1I (CMD-1I))
LGMD-2R (dystrophy, muscular, limb-girdle, type 2R (LGMD-2R))
MFM-1 (LGMD-1D)
SCPNK (scapuloperoneal syndrome, neurogenic, Kaeser type (SCPNK))
HGMD DES
GeneCards DES
GeneTests DES


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006342 2 desmin NM_001927.3 NP_001918.3 324


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 © 2008-2018. 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.