Fig. 1
From: Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Family trees, PEX13-associated clinical features, PEX13-interspecies alignment, PEX13 protein and PEX13-associated mutations. The pedigree diagrams of six families carrying PEX13 variants (A–E). PEX13-associated clinical features of individuals A.II-3 (F), B.II-1 (G), D.II-3 (H), and E.II-1 (I). Interspecies alignment of PEX13 protein sequences (J) generated with Clustal Omega (https://www.ebi.ac.uk) shows that p.Arg294Trp and p.Gly324Arg missense variants identified in this study occur at residues highly conserved across species (highlighted in yellow). Schematic of the human PEX13 protein indicating the positions of the variants identified so far (K)