Figure 2
From: Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation
Chromatograms of a nonsense mutation in APRT gene located on chromosome 16q24. Sequence analysis of a wild type control (A) and of patient’s DNA (B), on both strands of genomic DNA (C). The sequences from the wild type control are compared with the region including the new nonsense mutation. Amino acid residues are numbered from the start codon of the open reading frame along with the nucleotide numbers. The C > T replacement is indicated in red. The position of premature termination at amino acid 147 (p.Gln147X) in the mutant patient is indicated by stop codon in the box.