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
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 2620
Unique public DNA variants reported 906
Individuals with public variants 2012
Hidden variants 173
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 March 20, 2019
Version DYSF:190320

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 https://www.dmd.nl/dysf_home.html
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))
HGMD DYSF
GeneCards DYSF
GeneTests DYSF


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001610 2 transcript variant 8 NM_003494.3 NP_003485.1 2620


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