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. 2015 Dec 3;97(6):894–903. doi: 10.1016/j.ajhg.2015.11.003

Figure 4.

Figure 4

Overview of the Identified Variants and Their Effect on Glycosylation

(A) High-performance liquid chromatography (HPLC) spectra of serum transferrin show an increase in trisialo-transferrin for all affected individuals, when compared to those of a healthy control. The most severe hypoglycosylation is found in the person carrying the p.[Gly38Arg];[p.Ile340Asn] double variant.

(B) Isolectric focusing (IEF) of serum transferrin from three of the individuals described by Boycott et al. in this issue (B2, D4, D5) carrying only the homozygous p.Gly38Arg variant,31 and the two individuals described herein with variants p.[Val33Met; p.Ser335Thr];[p.Gly204Cys] and p.[Gly38Arg];[p.Ile340Asn], respectively. IEF shows increased trisialo-transferrin in all affected persons.

(C) Alignment of the five identified variants in SLC39A8 with amino acid exchanges highlighted in yellow. Indicated in red are amino acids that are conserved throughout all analyzed species. Blue denotes amino acids with inter-species variation. The number indicates the position of the exchanged amino acid. All identified variants result in an amino-acid exchange in highly conserved regions of the ZIP8 protein encoded by SLC39A8.