Distribution of TNFRSF14 mutations on protein and exon level in PTFL. (A) TNFRSF14 protein with its different domains and the cysteine repeats TNFR-Cys 1-3 above. Below, localization of exons is indicated by dashed lines with position of splice site mutations. Domains of the protein are represented according to the Uniprot database (www.uniprot.org). Exact positions of each TNFRSF14 mutation found in 21 PTFL cases are given. (B) Coverage representation for TNFRSF14 exons 1-8 of all PTFL and RH samples included in the study. The spacing of the scale on the y-axis is proportional to the logarithm of the number. (C) Exemplary view of the Integrative Genomics Viewer (IGV) showing the mutation p.M1_97del of PTFL11.