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. 2001 Jun 26;69(2):420–427. doi: 10.1086/321290

Figure 2.

Figure 2

Frameshift mutation in ATP7A. The 5′ and 3′ UTRs of the ∼8.5-kb ATP7A transcript are shown atop a gray background, and the 4.5-kb coding region is shown without a background. In the lower portion of the figure, the coding sequence of wild-type (wt) ATP7A exon 23 is enlarged. The wild-type guanine triplet at positions 4497–4499 is shown atop a black background. The BslI (ccnnnnnnngg) restriction site is shown above the wild-type nucleotide sequence. Conceptual translation of wild-type (without background) and mutant (atop a gray background) ATP7A is illustrated below the nucleotide sequence. The dileucine motif L1487L1488 is underlined in wild-type ATP7A. Stop codons are indicated by asterisks (*).