Fig. 1

Detection of a novel deletion mutation in the ATP7B in a WD patient: c.532_574del (p.Leu178Phefs*10). a The compound heterozygous mutation was found in the proband by direct Sanger sequencing. The novel deletion mutation was inherited from his father, and the other reported c.3517G > A (p.Glu1173Lys) mutation was inherited from his mother. The second fetus of the couple had just the heterozygous c.3517G > A mutation. Red arrow, changed base. b The pedigree was in line with the typical Mendelian inheritance of autosomal recessive genetic diseases. Black arrow, proband. c Illustrative explanation of the deletion mutation affecting ATP7B protein structure and composition. The 43-bp deletion results in a frameshift mutation to produce a truncated protein with 1279 amino-acid residues deleted at the C-terminus, compared with 1465 amino-acid residues in the normal ATP7B protein. Dashed arrows, changed position. MBDs, N-terminal metal-binding domains, including six copper binding domains; TM1–8, eight transmembrane domains building the transmembrane channel for copper transport; A-domain, a phosphatase domain or transduction domain where acyl-phosphate is dephosphorylated, performing ATP hydrolysis for copper cation transport; P-domain, a phosphorylation domain for Asp phosphorylation from the DKTGT sequence; N-domain, an ATP- or nucleotide-binding domain