Dysferlin Gene & Protein Sequence Information

  • Human DYSF protein sequence and domains (PDF)
    The DYSF protein sequence (accession number NM_003494) colored according to its known structural domains, which have been identified by sequence homology to other proteins.
  • Mouse-human DYSF protein sequence alignment (PDF)
    An alignment of the mouse DYSF sequence (accession number NM_021469) with the human DYSF sequence (accession number NM_003494); the human sequence is colored by its domain structure.
  • Comparison of dysferlin sequences from GenBank (PDF)
    Diagrams of the consensus dysferlin sequence (accession number NM_003494) compared to other dysferlin sequences submitted to GenBank, including alternate splicing variants and genomic sequences containing dysferlin exons.
  • Dysferlin splice variants (PDF)
    A report on the known splice variant s of dysferlin, including alternate exon 1 and the "optional" exons 5a, 17, and 40a.
  • Ferlin family members: conserved domains (PDF)
    Diagrams comparing the conserved domain structure of dysferlin protein to those of the other ferlin family members (otoferlin, myoferlin, Fer1L4, Fer1L5, and Fer1L6.
  • Ferlin family members: homology scores
    Diagram of the "distances" between the ferlin family members, as defined by their pair-wise BLAST homology scores.
  • Population-specific and founder mutations
    A list of known population-specific founder mutations in dysferlin, including details on the mutations, the affected populations, and the patient cohorts in which the mutations were identified.