pISSN 2234-3806
eISSN 2234-3814

Fig. 1. Distribution of MAN1B1 variants reported in the literatures and this paper. (A) Genomic locations of variants associated with MAN1B1-congenital disorder of glycosylation. The black rectangles indicate the 13 exons, and the gray rectangles indicate the 5′-untranslated region and the 12 introns. The upward-pointing text indicates single-nucleotide substitutions, and the downward-facing text indicates frameshifting deletions, except for one large deletion variant (c.465+1460_620+527del). The two variants found in our patient are highlighted in bold red. (B) Alignment of the mutations to the functional domains of endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (NP_057303.2) encoded by MAN1B1 (NM_016219.5). The left vertical bar represents the number of times the mutation has been reported, and the horizontal bar below indicates the location of amino acids. The corresponding amino acid changes for the two variants reported in this paper are highlighted in bold red.

Ann Lab Med 2025;45:112~115 https://doi.org/10.3343/alm.2024.0226