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Amino acid sequences for the wild type and mutant PITX2A protein
c.198_201delinsTTTCT causes frameshift and substitutes amino acids 66–197 by abnormal residues (red), and results in a truncated PITX2A protein with disrupted homeodomain (box). In addition, it lacks the 14-amino acid OAR domain (underlined) in the C-terminus (Note: for interpretation of the references to color in this figure legend, the reader is referred to the web version of this article)
