Figure 4. Direct sequencing of exon 13 of
the TGFBI gene in the proband of Family Three (individual I-1). The DNA
sequence around the codon for histidine 572 (CAC) of the TGFBI gene is
presented. The sequence shows a heterozygous, single-base A→G
transition at nucleotide 1762, resulting in the replacement of
histidine (CAC) with arginine (CGC) (H572R). The codon numbers and the
amino acid sequence are indicated at the top of the figure.