Fig. 2.

Schematic representation of the TGIF coding region (cDNA). The mutations found in probands are depicted with the type of HPE noted in parentheses. Amino acids are labeled from left to right. Functional domains are shaded, including an amino-terminal repression domain, 2 carboxyl-terminal repression domains, and a homeodomain. Domains are based on Wotton et al. [1999b] and Mukherjee and Bürglin [2007]. Functional significance is indicated as based on El-Jaick et al. [2007]. ° Two variants found in the same patient; ⁁ variant found in proband's mother, proband's sample not available. A = Alobar; S = semilobar; L = lobar; M = microform; U = unknown; fs = frameshift.