Figure 3: Identification of PNPLA2 mutation. A) Electropherogram of PNPLA2 exon 5 shows the c.570A>C (p.S191R) mutation; B) The amino acid sequence alignment of ATGL in 11 mammals (H. sapiens, P. troglodytes,M. mulatta, C. familiaris, B. taurus, S. scrofa, M. musculus, R. norvegicus, E. caballus, L. africana and M. domestica) reveals complete conservation of serine 191; C) Schematic representation of ATGL protein shows the localization of p.S191R mutation in the region between patatin and hydrophobic domain.