Figure 2. Partial nucleotide sequences of exon 14 of TGFBI in this family. A: A normal sequence is shown, which has valine in codon 624. B: The proband and his brother had homozygous substitutions in nucleotide 1870, which is predicted to alter the amino acid at codon 624 (Val624Met). C: The proband’s daughter had a heterozygous substitution of valine to methionine in the same codon. The observed nucleotide change in exon 14 of TGFBI has not been detected in the general population.