Overview of human leptin mutants. Mapping of the eight distinct human leptin mutations to the human leptin gene, leptin cDNA, and immature as well as mature leptin protein. Where applicable, the sizes of individual portions are given either in base pairs (bp) or amino acids (aa). For the leptin gene, exons are depicted as filled boxes while introns and flanking regions are depicted as thin lines. The portions of exon 2 and exon 3 that form the open reading frame (ORF) are colored in a darker shade. For the leptin cDNA, the 5′ and the 3′ untranslated region (UTR) are colored in a lighter shade while the ORF is colored in a darker shade. For the immature leptin protein, the signal peptide that gets cleaved off during the maturation process is colored in a darker shade. For the mature leptin protein, the chosen nomenclature is not consistent with the HGVS recommendations. All sequence information is based on [Ensembl:ENSG00000174697, Ensembl:ENST00000308868].