Figure 3. Partial nucleotide sequence of
exon 12 of TGFBI in affected and unaffected individuals. A:
is shown where the isoleucine is encoded by codon
522. B and C: The forward and reverse sequence shows a
heterozygous genotype (1565T→A) in all the affected family members,
which resulted from a change of isoleucine (ATC) to asparagine (AAC) at
codon 522, thus altering the structure and property of the protein.