Extended Data Table 3 Disease-related mutants on the DGC

From: Structure and assembly of the dystrophin glycoprotein complex

  1. The mutations reported to cause severe, intermediate, and mild phenotypes are shaded in red, blue, and green, respectively. Other mutations do not have a clear severity reported. *: premature translation termination; #: the Δ525 T mutation results in a frameshift at codon 175, leading to the production of 18 additional missense animo acids until a premature termination at codon 194; †: also known as Muscular Dystrophy-Dystroglycanopathy, Type C, 9 (MDDGC9); LGMD: Limb-girdle muscular dystrophy; CMD3B: Cardiomyopathy, dilated, X-linked 3B; DMD: Duchenne-like muscular dystrophy.
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