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Missense, nonsense and frameshift mutations observed in this study. Arrows indicate the position of each respective mutation relative to the protein domains. Novel mutations are indicated by red font, whereas previously described mutations are black. UBL, ubiquitin-like domain; RING1, RING finger motif 1; IBR, in-between-RING domain; RING2, ring finger motif 2; MTS, mitochondrion transit sequence.
