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. Author manuscript; available in PMC: 2016 Jul 1.
Published in final edited form as: Hum Mutat. 2016 Mar 21;37(7):653–660. doi: 10.1002/humu.22983

Figure 1.

Figure 1

Pathway showing the enzymatic step requiring ALG1 mannosyltransferase activity and schematic showing mutations identified within ALG1. (A) Schematic showing only the early N-linked glycosylation pathway on the cytoplasmic facing side of the ER with the ALG1-dependent step highlighted with a red (X) over the arrow. (B) Schematic showing exon location of all the ALG1 mutations identified in this study. The mutations identified in this study are highlighted in red. For splicing mutations, nucleotide numbering for cDNA uses +1 as the A of the ATG translation initiation codon in the reference sequence.