FIGURE 1:

Schematic representation of the (A) PRKN and (B) PINK1 genes and respective proteins and associated disease-linked mutations. Exonic deletions (in red), duplications (in green), or triplications (in blue) are shown in the upper panel, and point mutations (missense, frameshift, nonsense, and splice) are shown in the lower panel. Newly identified mutations are shown in bold. Numbers in brackets indicate the number of mutation carriers. PRKN cDNA numbering: NM_004562.2; PINK1 cDNA numbering: NM_032409.2. IBR, in-between RING; MTS, mitochondrial targeting sequence; RING, really interesting new gene; TM, transmembrane helix; UBL, ubiquitin-like.