Figure 6. Summary of the mutations detected in this study

The hatched boxes indicate the location of the forkhead domain (FHD) within the FOXC1 coding sequence. The two white boxes represent the locations of two polymorphic poly-glycine tract. The distribution of missense mutation Ala85Pro, and frame shift mutation (437-453del17) are illustrated. Ala85Pro and 437-453del17 existed in the FHD. The predicted protein translations are shown below the gene diagram for the frame shift mutations. The slashed boxes represent those areas of the protein that are translated differently than the normal FOXC1 protein; truncated 298 amino acids.