Figure 5.

(a) Schematic genetic map of TSEN54 (NM_207346.2) and the c.1170G>A variant identified in the consanguineous family members. The c.1170G>A is located in exon 8. (b) The three‐dimensional structure is shown. This complex is composed of TSEN2, TSEN15, TSEN34, and TSEN54. TSEN15 and TSEN54 are structural units of TSEN complex, while TSEN2 and TSEN34 play an important role as catalytic units. After processing by the tRNA endonuclease, the intron is removed, resulting in the mature tRNA. (c) The amino acid sequence of GPT2 colored based on conservation scores by the ConSurf database. ConSurf demonstrates evolutionary conservation profiles for proteins of known/unknown structure according to the phylogenetic relations between homologous sequences as well as amino acid's structural and functional importance. To be on the safe side, the UCSC database used to show the conservation of specific regions including the variant site in vertebrae, with high brain function and structure. (d) The RNAsnp webserver output for the putative structurally variant. the variant can significantly increase the minimum free energy from −181.50 kcal/mol to −180.20 kcal/mol. The green lines show the optimal secondary structure of the global wild‐type sequence (970‐1370), while the red one is exhibiting the optimal secondary structure of the global variant sequence in the same region