Duchenne muscular dystrophy (DMD) is a genetic disorder that leads to the degeneration of muscle tissue over time due to changes in a protein called dystrophin.
Dystrophin is a rod-shaped protein that acts as a link connecting actin filaments in muscle fibres to the extracellular matrix by attaching to a protein complex (DAPC) located in the sarcolemma.
Dystrophin is coded for by the DMD gene, and the complete protein consists of four domains (N-terminal, Rod, Cys-domain and C-terminal), as shown in the diagram below.
The following diagram shows the regions of the DMD gene that codes for the different domains of dystrophin.
One of the causes of Duchenne muscular dystrophy is a substitution mutation that leads to the formation of a stop codon in the rod domain of the DMD gene.
Explain the impact this mutation would have on the resulting dystrophin protein by using the information in the diagrams.