Dystrophin: Genotypes & Phenotype Correlations

Overview

Mutation types & size Point Missense Splice Pseudoexons Deletions Chromosome Duplications Reading frame Dystrophin, Other Modifiers & Other genes Dystrophin gene mutations: Types & Size General: > 3,500 different mutations described Missense/nonsense (690) Splice (300) Regulatory (1) Small deletions (433) Small insertions (163) Small indels (49) Gross deletions (1,268) Gross insertions/duplications (571) Complex rearrangements (100) Point mutations, dystrophin 10 Locations Along entire gene > 40% 3' of exon 55 Many in splice acceptor/donor sites or regulatory domains Promoter region: Associate

OMIM Entries

External Resources