Figure 2. Comparison of mutated Ala85Pro with the normal gene sequence and family 1 pedigree

At top left, a fragment of the FOXC1 sequence in an affected subject is shown. Ala85Pro is shown as a heterozygous novel mutation (G>C) at the first nucleotide in codon 85 which changed Alanine to Proline, seen at top right. At bottom left, a fragment of the FOXC1 sequence in a normal subject is illustrated. The pedigree of family 1 is displayed at bottom right. The solid square indicates the father and the solid circle indicates the proband.