Figure 3 of
Correa-Gomez, Mol Vis 2007;
13:1695-1700.
Figure 3. Partial nucleotide sequence of TGFBI exon 12
A heterozygous C>A transversion was demonstrated (indicated by the arrow) at nucleotide position 1637 (c.1637C>A), predicting a replacement from alanine (GCC) to aspartic acid (GAC) at protein residue 546 (A546D).