Figure 2 Molecular Genetic Investigations of the Two JBTS-Affected Families
(A) Genome-wide homozygosity mapping shows the shared homozygous region between the affected members of the two families on chromosome 10 (blue rectangle). Regions of homozygosity are shown in red, and the position of ARL3 is marked with a black arrow.
(B) Schematic representation to ARL3 with the homozygous missense variants located in exon 5.
(C) Evolutionary conservation of residue Arg149, which is highly conserved throughout all species shown except D. melanogaster.
(D) Sequence chromatograms of the two different ARL3 variants described in this study.