Figure 3. Partial nucleotide sequence of TGFBI exon 14. A: The sequence in an affected subject shows a heterozygous G>A transversion (indicated by the arrow). The nucleotide substitution at codon 623 resulted in a change from glycine (GGC) to aspartic acid (GAC). B: Unaffected family members and the control subjects lacked this nucleotide change.