Results: 2

1.
Figure 2

Figure 2. From: Locus-Specific Mutation Databases for Neurodegenerative Brain Diseases.

Example of graphical presentation of gene mutations. Shown is the example of VCP mutations in the 3D organization of three monomers of the homohexameric protein organization (PDB entry 3CF3). Mutations are shown as red atoms on the ribbon presentation of the CDC48-like N-terminal domain (yellow), and D1 (blue) and D2 (green) ATPase domains, clearly demonstrating the alignment of mutations at the interface between the CDC48 and D1 domains [Weihl et al., 2009].

Marc Cruts, et al. Hum Mutat. 2012 September;33(9):1340-1344.
2.
Figure 1

Figure 1. From: Locus-Specific Mutation Databases for Neurodegenerative Brain Diseases.

Boxplot showing disease onset age distributions per gene. Family-based average onset ages of established pathogenic variants were used. For PARK7, PARK2, and PINK1, only patients carrying homozygous or compound heterozygous mutations were included in the calculations. Boxes represent the interquartile onset age distribution, horizontal lines indicate medians, whiskers show standard deviations, and circles indicate outliers.

Marc Cruts, et al. Hum Mutat. 2012 September;33(9):1340-1344.

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