Figure 3

A summary of G6PC3 mutations. A schematic representation of the G6PC3 gene. The starting and ending nucleotide numbers of the cDNA and their corresponding amino acid residue numbers are provided within each exon. Each mutation is represented once for every family in which it was detected. The inverted triangles represent missense mutations, the block-arrows represent splice-site mutations and stars represent truncating or frame-shift mutations. UTR is untranslated region.