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Fig. 5 | Diabetology & Metabolic Syndrome

Fig. 5

From: Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications

Fig. 5

a Genomic map of the AGPAT2 gene showing the main mutations reported in Brazilian patients with lipodystrophy. Mutations in bold are those reported in this study. The underlined mutation is the novel AGPAT2 frameshift mutation reported in this study. Numbered boxes represent exons and the in-between lines indicate introns. b Schematic of the 1-AGPAT2 protein, showing the two conserved motifs, NHX4D and EGTR, and localizing the novel mutation reported in this study. c Schematic of the mutated 1-AGPAT2 protein resulting from the Leu124Serfs*26 mutation which leads to a stop codon at the 26th position from the first amino acid changed, generating a truncated protein that misses the EGTR motif

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