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. Author manuscript; available in PMC: 2021 May 10.
Published in final edited form as: J Med Genet. 2014 Dec 5;52(2):85–94. doi: 10.1136/jmedgenet-2014-102856

Figure 2.

Figure 2

PNPLA6 mutations are associated with Oliver–McFarlane and Laurence–Moon syndromes. (A) An illustration of PNPLA6 gene structure along with the mutations. Exons highlighted corresponding to protein domains. (B) Predicted PNPLA6 protein structure includes three cNMP domains and one patatin-like domain. (C) Alignment of portions of PNPLA6 proteins from various species, showing conservation of the neuropathy target esterase domain residues mutated in patients with Oliver–McFarlane and SPG39 syndromes. (D) A homology model of the catalytic domain of PNPLA6 constructed using SWISS-MODEL,52 and 10XW.PDB as a template. The location of mutations (red) and the enzymatically active residues (blue) are shown. cNMP, cyclic-nucleotide monophosphate.