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.
LOVD DYSF homepage

General information
Gene name Dysferlin
Gene symbol DYSF
Chromosome Location 2p13.3-p13.1
Database location the Leiden Muscular Dystrophy pages
Curator Johan den Dunnen
PubMed references View all (unique) PubMed references in the DYSF database
Date of creation September 28, 1998
Last update September 26, 2014
Version DYSF140926
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008694.1
Transcript refseq ID NM_003494.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 509
Total number of individuals with variant(s) 1331
Total number of variants reported 2294
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NOTE Request from the Jain Foundation; LGMD2B/MM patient registry.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the DYSF database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
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 DYSF database, without patient data
Complete sequence variant listing Listing of all sequence variants in the DYSF database
Variants with no known pathogenicity Listing of all DYSF 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.dmd.nl/dysf_home.html
HGNC 3097
Entrez Gene 8291
OMIM - Gene 603009
OMIM - Disease #1 dystrophy, muscular, limb-girdle, type 2B (LGMD-2B)
OMIM - Disease #2 myopathy, Myoshi (MM)
HGMD DYSF
GeneCards DYSF
GeneTests DYSF
External link UMD-DYSF mutations database

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 © 2014. 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.