Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family
Figure 4
Domain structure, conservation analysis and mutational analysis of MYO7A in family 7162.
A: Domain structure of myosin VIIa showing the nonsense mutation introduces a premature stop codon which is predicted to truncate the protein within the N-terminal motor domain. B: Protein alignment showing conservation of residues myosin VIIaG25 and C154 across nine species. Two mutations both occurred at evolutionarily conserved amino acids (in red box). C: DNA sequencing profile showing the c.73G>A and c.462C>A mutations in MYO7A. Both variants co-segregated with the clinical phenotype and c.462C>A were absent in 219 ethnicity-matched controls.