Fig. 1

Identification of the RAB39B p.G192R mutation by whole exome sequencing in a multigenerational kindred with Parkinson’s disease. a Pedigree diagram; individuals affected with Parkinson’s disease are represented with black symbols, unaffected individuals with open symbols. Age at onset is indicated immediately below each symbol, followed by age at last clinical evaluation. Wt = wild type; Mut = mutation (p.G192R). b Multispecies protein sequence alignment. Hs = Homo sapiens; Mm = Mus musculus; Dr = Danio rerio (zebrafish); Dm = Drosophila melanogaster; Ce = Caenorhabditis elegans. c Predicted protein structure of RAB39B using Protein Homology/analogY Recognition Engine V 2.0 (Phyre²; http://www.sbg.bio.ic.ac.uk/phyre2/html/page.cgi?id=index) [23]; 89 % of the amino acid residues were modeled at >90 % confidence. P.G192R is located in the hypervariable C-terminal domain which is depicted in red