Fig. 1
From: Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis
Identification of a heterozygous XPO5 missense variant in familial FSGS (FS-133). A Pedigree of the family (FS-133). Symbols are represented as: males (squares), females (circles), affected individuals having kidney related problem (black), phenotype unknown (gray), unaffected individuals (blank), star (individuals selected for whole-exome sequencing), and arrowhead (proband). B Sanger sequencing of mutant XPO5 (c.T1655C, p.V552A) of II: 1, II:3, III:2 and III:3 and wild type for II:2 and II:4. C Jones stain (400X) showed one nearly normal glomerulus. D Periodic acid–Schiff (PAS) stain (400X) showed foam cells (white arrow) in renal interstitium. E The XPO5 variant chr6: g.43519108A > G is supposed to cause a T > C substitution at complementary DNA nucleotide 1655 and introduce a substitution codon at codon 552, resulting in a missense variant p.V552A in a predicted protein of 1204 amino acids. Information of protein domains is from UniProt (Q9HAV4). Mut, mutant; WT, wild type