Figure 4. Distribution of the missense mutations in the Myocilin gene

The diagram illustrates MYOC and its protein. The boxes represent the encoded regions by each exon (exon and codon numbers given below the diagram). The gray oval shows the conserved olfactomedin domain, and the location of the two highest mutable regions are shown by black bars (marked regions, A and B). The codons 361-380 (A) contain 11 mutations and codons while 421-440 (B) contain nine mutations. Mutations reported from regions A and B together account for more than 30% of the total missense mutations in MYOC reported to date (20 out of 64). Note that the novel mutation p.Phe430Leu is located in the middle of region B. The reported mutations are retrieved from the human gene mutation database.