Figure 1.
Figure 1. Representation of the normal UNG protein consisting of 313 amino acids and the putative truncated protein of 158 amino acids identified in patient 82. The deletion of 2 nucleotides (AT) in exon 2 (E2) causes frameshift at amino acid 143, resulting in a stop codon at position 159.

Representation of the normal UNG protein consisting of 313 amino acids and the putative truncated protein of 158 amino acids identified in patient 82. The deletion of 2 nucleotides (AT) in exon 2 (E2) causes frameshift at amino acid 143, resulting in a stop codon at position 159.

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