Figure 2. Predicted consequences of the perilipin-1 439fs mutant and documentation of its expression in adipose tissue.
A) A schematic representation of the expected effects of the perilipin-1 439fs mutation on the protein domain organisation. B) Immunoblots showing perilipin-1 and 2 expression in adipose tissue samples from proband A (these include a visceral fat and subcutaneous leg fat sample) compared with expression in subcutaneous abdominal fat samples from two control samples. The N-terminal perilipin-1 antibody (GP29) detects both mutant (arrow) and wild type perilipin-1, whereas the C-terminal antibody only detects wild type perilipin-1. Calnexin was used as a loading control.