Official HGNC-approved Gene Symbol: DYSF
HGNC ID: 3097
The major transcript found in skeletal muscle (Pramono et al. 2009) corresponds to isoform 8 and is the variant used as reference in UMD-DYSF (RefSeq accession: NM_003494.2). It is transcribed under the “classical” DYSF promoter, shows exons 5a and 40a exclusion and exon17 inclusion, has a coding sequence of 6 243bp divided into 55 exons, and encodes a 2080 amino acid protein.
Table of exon coordinates (Show/Hide)
Schematic representation of DYSF exon organization (Show/Hide)
Representation of the 55 exons of the human dysferlin gene (blue). Red boxes correspond to the 5´ and 3´ UTR. On top of each exon, the length in base pairs is indicated. Inside the boxes the position of the first and last amino-acid residue is written in red. Below each exon the bioinformatics predictions of protein domains are represented (ScanProsite solid line and Pfam dotted line) along with binding sites with AHNAK, caveolin-3 and affixin. The intron lengths are mentioned between the exons. The genetic defects in the dysferlin gene of three mouse models are depicted on the scheme. The phasing was performed using the UMD-DYSF database.
From Wein et al. 2010.
List of exons and introns sequences (Show/Hide)