Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease

Figure 2

(a) Domain structure and missense variants associated with autosomal recessive parkinsonism detected in the RING1 domain of parkin protein [10, 14, 15, 21, 23–28]. Two variants detected in this study are highlighted in bold. β-Strand and α-helix are in dark blue and pink, respectively. Zinc-binding cysteines are signed with orange dots. (b) Cartoon representation of the p.T240K and p.L272R variants in parkin protein by PyMOL. Parkin protein crystal structure (PDB code 5C1Z) was used as a template [29]. Variants are shown as red stick models, and Zn²⁺ are shown as spheres. pUb, Ser65-phosphorylated ubiquitin.

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