fig1

Figure 1. The three identified NUS1 heterozygous missense variants, c.127G>T (p.Ala43Ser), c.487G>C (p.Asp163His), and c.537T>A (p.Asp179Glu). (A) The Sanger sequencing results of three missense variants, as well as a synonymous variant (c.126C>A, p.Arg42=, rs947563301) co-occurring with c.127G>T; (B) Sequence alignment of the NUS1-encoded NgBR protein in different species, with arrows pointing to the amino acids affected by the variants; (C) The locations of three variants in the pattern diagram and topological model of NgBR protein, mainly localized to the endoplasmic reticulum. NUS1: the NUS1 dehydrodolichyl diphosphate synthase subunit gene; TM: transmembrane domain; aa: amino acid; cis-PTase homology: cis-prenyltransferase homology domain; ER: endoplasmic reticulum; NgBR: neurite outgrowth inhibitor B receptor.