Figure 2.

RAB5C is depicted along with known G-motifs (green bars). Missense mutations as retrieved from gnomAD are depicted with gray bars. Rab5c variants found in patients are depicted in triangles (missense) and asterisk (frameshift). Note that most missense mutations localize to a G-motif that is essential in nucleotide binding, except for one patient (I129N) that had a relatively mild phenotype. Variants used for further functional characterization in bold.