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. 2019 Sep 4;198(3):416–429. doi: 10.1111/cei.13365

Figure 1.

Figure 1

Gene mutations in TNFRSF1A. (a) Pedigree of the family of patients with tumor necrosis factor (TNF) receptor‐associated periodic syndrome (TRAPS). Patients (patients A and B) had both G87V and T90I mutations in the same allele of the TNFRSF1A gene. Patients with periodic inflammatory episodes are indicated as black symbols. Subcloning examination revealed that both G87V and T90I mutations are located on the same allele. The family members subjected to genetic tests are marked in bold. Types of mutations are indicated next to each symbol. (b) DNA sequence electropherograms of TNFRSF1A. Two locations of a heterozygous single‐base mutation, specifically c.260 G>T (G87V: p.Gly87Val) and c.269 C>T (T90I: p.Thr90Ile), in exon 3 were detected. Subcloning examination revealed that both the G87V and T90I mutations are located on the same allele of the TNFRSF1A gene. (c) Gene structure of TNFRSF1A and position of TRAPS mutations. TM = transmembrane domain; CRD = cysteine‐rich domain. T79M, G87V and T90I mutations are located in exon 3. The R121Q mutation is located in exon 4. (d) Comparison of peptide sequences among species. Red color indicates residue 87.