Distribution for age of onset of NS in 35 individuals with homozygous mutations in PLCE1. (A) Homozygous PLCE1 mutations are represented by 30 different alleles. The x-axis indicates the mutations sorted by median age of onset. The y-axis indicates the age of onset of SRNS. Symbols are colored red, green, or blue if the allele is truncating, splice, or missense, respectively. (B) Age of onset of SRNS with causative mutations detected in PLCE1, grouped by type of mutation. The x-axis indicates the type of mutations (truncating mutations before amino acid (aa) residue 1000 (N-terminal), truncating mutations after aa residue 1000 (C-terminal), splice and missense mutations. The y-axis indicates the age of onset of proteinuria. Symbols are blue for missense, green for splice, and red for stop and frameshift. Note that the age of onset was significantly different between splice site mutations versus C-terminal truncating mutations (P<0.05), or splice site versus missense mutations (P<0.05). P values are from two-tailed t test. Arrows represent position of outlier values.