Figure 1.

The results of mutation screening. (a) RTN4R gene structure based on ENST00000040608; the protein-coding exons sequenced in this study are indicated by yellow box. Untranslated regions (UTR) are indicated by gray box. Four rare missense mutations were discovered in exon 2. (b) RTN4R protein structure (473 amino acids). N-terminal (NT) leucine-rich repeat (LRR) domain (green box), eight LRR domains, CT-LRR domain, a stalk domain and GPI anchorage site (purple box) are contained in RTN4R. R68H, D259N and R292H are located in LRR domain. V363M is located in the Stalk domain. LRR domain is ligand-binding regions such as RTN4, MAG, OMGP and LGI1.³⁵ Stalk domain is the interaction site for co-receptor p75NTR of TROY and is needed for RhoA activation.³⁶ Variants discovered in this study are indicated in square box. Previously published missense mutations^{24, 26, 37, 38, 39} associated with schizophrenia (SCZ) are underlined. (c) Results of the Sanger sequence showing the discovered rare missense mutations. The mutated sites are indicated by the arrows. (d) The results of evolutionary conservation analysis.