The UMD-DYSF mutations database
The gene

Official HGNC-approved Gene Symbol: DYSF
Aliases: LGMD2B, FER1L1, FLJ00175, FLJ90168
Official HGNC-approved Gene Name: dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)

Database links:

HGNC ID: 3097
Entrez Gene ID: 8291
Ensembl ID: ENSG00000135636
UCSC
GeneCards

Transcript variants and reference sequence information
This large-sized gene encompasses 233kb on Human chromosome 2 (cytogenetic band 2p13.3). A total of 14 unique transcripts variants have been described, derived from alternative splicing involving exons 5a, 17 and 40a (Salani et al. 2004, Pramono et al. 2009). Seven variants are transcribed under the “classical” DYSF promoter (Genbank accession: AF075575) and the seven other variants are transcribed under the DYSF_v1 promoter (Genbank accession: DQ267935). All variants are described on the NCBI Entrez gene page for DYSF. For additional information on splice variants, see the Jain Foundation web site.

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.

Coding sequence (Show/Hide)