Figure 1.

Human B3GLCT contains two putative GT domains, and PTRPLS/PTRPLS-like mutations are predominantly localized in the C-GT domain.A, domain map of human B3GLCT with schematic distribution of PTRPLS (black) and PTRPLS-like (blue) mutations throughout the protein. Two putative DxD motifs, ¹³²EEE¹³⁴ and ³⁴⁹DDD³⁵¹, are highlighted with arrows. B, common GT-A fold elements (6) identified from the multiple sequence alignment of the N-GT-like and C-GT domains from B3GLCT shown in Figure S1. Human (UNIPROT Q6Y288), mouse (UNIPROT Q8BHT6), zebrafish (UNIPROT A0A068F9P7), fruit fly (UNIPROT X2JDC2), and starfish (NCBI REFSEQ XP_038056415.1). Sequences were aligned with the MAFFT software/algorithm. Red background highlights regions of 100% sequence identity within the shown sequences; red letters indicate regions of 100% sequence similarity; purple boxes highlight DxD motifs; green boxes highlight G-loop; gray boxes highlight predicted xED motifs (note that two potential xED motifs are highlighted for N-GT-like domains); orange boxes highlight C-His.