Figure 3.

Impact of aberrant splicing on ATP7B structure. (A) Exon structure of ATP7B, with even and odd numbered exons differently colored for distinction. (B) Protein structure of ATP7B showing key structural elements and functional domains. Region boundaries were obtained from PFAM (Cu-binding domains) or the published crystal structure of ATP7B (all others). Skipping of exons 6 and 7 (dotted rectangle) removes 84 amino acids (residues 624–707), removes the first transmembrane domain (often called TMA), and may also impact the sixth Cu-binding domain (MBD6) and second transmembrane domain (TMB).