Figure 3:

ATP7B peptide concentrations in patients with common variants are often reduced and variants causing false negatives are rare. Patients homozygous and heterozygous for p.H1069Q (A), R778L (B), M645R (C) and E1064A (D) are largely reduced. False negatives within the patient cohort are possible with the presence of specific variants including G710S (E) and R969Q (F). Patients can have variable peptide concentrations depending on the second variant. H = Homozygote, CH = Compound Heterozygote. Dotted Lines represent peptide diagnostic cutoffs.