Dysferlin background and research tools

The UMD-DYSF resources 

UMD-DYSF includes interactive analysis of disease-causing mutation statistics and distribution, and bioinformatics tools for the interpretation of novel sequence variants. The UMD-DYSF website offers:

Documentation on the DYSF gene (gene characteristics, sequence, exonic organisation and orthologues)
Documentation on the dysferlin protein (structural organisation, tissue distribution, functional roles, known interacting proteins or mice models for dysferlinopathies)
A summary of clinical characteristics of dysferlinopathies
A list of all the scientific publications referencing mutations of the dysferlin gene described or predicted as deleterious
Lists of founder and recurrent dysferlin mutations in the dysferlin gene
UMD tools and search modules to retrieve and analyse DYSF disease-causing variants
Additional UMD tools are available here

The Jain Foundation resources 


The LOVD-Dysferlin mutational database