FIGURE 1.

Schematic representation of the domain organization of αβ phosphotransferase and the location of the missense mutations. It should be noted that the precise boundaries of the various domains might vary, as the boundaries shown in this figure were mostly based on sequence alignments. Two of the missense mutations occur at the same residues (334 and 956) but cause different amino acid (aa) changes. H956R was not analyzed in this study, as it likely has the same consequence as H956Y. The patient with C523R was homozygous for this mutation, but the clinical phenotype was not specified (23).