Figure 3
POMC mutations. Representation on a cartoon of the POMC peptide of the homozygous or compound heterozygous coding region variants that have been associated with the POMC gene deficiency syndrome (OMIM #609734) in the filled black arrows. Unfilled arrows indicate the location of the heterozygous defects that have been associated with defective β-MSH processing or function. The boxed regions represent the three MSH sequences in the peptide. JP, joining peptide; CLIP, corticotrophin-like intermediate peptide; β-end, β-endorphin.
