Jos Jansen

84 Chapter 3 Supplementary files Figure S1 MALDI mass spectrometry profiles of total serum N-glycans of a healthy control and TMEM199 deficient individuals F1-II2, F1-II3 and F3-II1. An increase in hypoglycosylated glycans can be seen for all affected individuals when compared to a healthy control. Most notably the glycans with theoretical masses of 2433 m/z and 2228 m/z are increased, indicating loss of one sialic acid (2433 m/z) or one sialic acid plus one galactose (2228m/z). Table S1 quantifications of transferrin Isoelectric focusing 0-sialo (%) 1-sialo (%) 2-sialo (%) 3-sialo (%) 4-sialo (%) 5-sialo (%) 6-sialo (%) Control range (n=60) 0.0-3.2 0.0-5.0 3.3 -7.6 4.9 -10.6 47.3-62.7 18.7-31.5 3.2-7.8 Family indi- vidual F1 II2 2.85 7.07 ↑ 16.46 ↑ 24.38 ↑ 33.58 ↓ 13.49 ↓ 2.17 ↓ II3 1.28 4.53 15.60 ↑ 27.26 ↑ 34.64 ↓ 13.77 ↓ 2.92 ↓ F2 II2 1.31 3.51 11.18 ↑ 21.95 ↑ 49.53 ↓ 10.54 ↓ 1.98 ↓ F3 II1 1.4 3.9 13.6 ↑ 27.6 ↑ 38.7 ↓ 12.4 ↓ 2.5