FIGURE 5.

Localization of loss-of-function PCFT mutations. Panel A, pcft mutations are indicated in the cDNA region subjected to random mutagenesis. The horizontal numbers denote the positions of nucleotides in the pcft coding region. Base deletions and insertions are depicted above the line, whereas base substitutions are indicated below the line. The mutations underlined were previously reported in subjects with HFM. Panel B, PCFT missense mutations are indicated on the topological structure of PCFT (27). Point mutations identified in the current study, as well as in a subject with HFM, are indicated by gray circles. Mutations identified in subjects with HFM are underlined.