The DYSF gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
NOTE: the DYSF coding DNA reference sequence used has been updated. The "DNA_change" column gives descriptions based on NM_003494.3, meaning that exon 40b has been removed and variant descriptions 3' of c.4410 differ from those given previously (-63 nucleotides). The column "DNA_AllExon" gives descriptions based on a transcript incl. exons 5b and 40b. For details see the DYSF coding DNA reference sequence.
General information
Gene symbol DYSF
Gene name dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Chromosome 2
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_008694.1
Transcript reference NM_003494.3
Exon/intron information NM_003494.3 exon/intron table
Associated with diseases DMAT, LGMD-2, LGMD-2B, MMD, MMD-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 3574
Unique public DNA variants reported 1105
Individuals with public variants 3052
Hidden variants 213
Notes This database is one of the gene variant databases from the:

Request from the Jain Foundation; LGMD2B/MM patient registry.
Date created September 28, 1998
Date last updated October 12, 2020
Version DYSF:201012

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_003494.3.
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
External URL UMD-DYSF mutations database
HGNC 3097
Entrez Gene 8291
PubMed articles DYSF
OMIM - Gene 603009
OMIM - Diseases DMAT (myopathy, distal, with anterior tibial onset (DMAT))
LGMD-2B (dystrophy, muscular, limb-girdle, type 2B (LGMD-2B))
MMD-1 (dystrophy, muscular, Miyoshi type 1(MMD-1))
GeneCards DYSF
GeneTests DYSF

Active transcripts




NCBI ID     

NCBI Protein ID     

00001610 2 transcript variant 8 NM_003494.3 NP_003485.1 3574

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 © 1998-2020. 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.