fig1

Identification of <i>PLA2G6</i> variants in a Chinese patient with Parkinson's disease

Figure 1. (A) Pedigree of a Chinese family with Parkinson’s disease. A square indicates a male and circles indicate females. The fully shaded symbol indicates the affected individual and the empty symbols indicate unaffected members. Slashed symbols represent deceased members. (B, C) The sequencing for the PLA2G6 variants, c.402C>T and c.2327_2328del, in the individual (II:1) with Parkinson’s disease. (D) Cartoon models of the wild-type (left) and mutated (right) PLA2G6 proteins shown by PyMOL. The segments of wild-type (WT) PLA2G6 protein (residues 776-806) and mutated (MT) PLA2G6 protein caused by the variant c.2327_2328del [p.(Thr776Serfs*15], residues 776-789) are marked in the cartoon models, and the corresponding sequences are shown in the bottom. PLA2G6: phospholipase A2 group VI gene

Ageing and Neurodegenerative Diseases
ISSN 2769-5301 (Online)

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