Hyper IgE syndrome (HIES, p.Glu340del)

Taxonomy

• Homo sapiens (Human)

Protein

Source

• EBV-transformed B-cell (CL_0000236)  

Reported structure

• N-Linked / Complex / Structure 3446
• N-Linked / Complex / Structure 1523
• N-Linked / Complex / Structure 10203
• N-Linked / Complex / Structure 1519
• N-Linked / Complex / Structure 10151
• N-Linked / Complex / Structure 350
• N-Linked / Complex / Structure 10286
• N-Linked / Complex / Structure 10164
• N-Linked / Complex / Structure 10165
• N-Linked / High-Mannose / Structure 10285
• N-Linked / Hybrid / Structure 10289
• N-Linked / Hybrid / Structure 10125
• N-Linked / Hybrid / Structure 398
• N-Linked / Hybrid / Structure 10154
• N-Linked / Hybrid / Structure 10132
• N-Linked / Hybrid / Structure 10235
• N-Linked / Hybrid / Structure 10237

Composition

• Hex:5 HexNAc:4 dHex:1 NeuAc:1 (avg mass : 2078.9082 )
• Hex:5 HexNAc:4 dHex:1 NeuAc:2 (avg mass : 2370.1661 )
• Hex:5 HexNAc:5 dHex:1 (avg mass : 1990.8453 )
• Hex:5 HexNAc:5 dHex:1 NeuAc:1 (avg mass : 2282.1032 )
• Hex:5 HexNAc:5 dHex:1 NeuAc:2 (avg mass : 2573.3611 )
• Hex:6 HexNAc:3 dHex:1 NeuAc:1 (avg mass : 2037.8556 )
• Hex:6 HexNAc:4 dHex:1 (avg mass : 1949.7927 )
• Hex:6 HexNAc:4 dHex:1 NeuAc:1 (avg mass : 2241.0506 )
• Hex:6 HexNAc:5 dHex:1 NeuAc:1 (avg mass : 2444.2456 )
• Hex:6 HexNAc:6 dHex:1 NeuAc:1 (avg mass : 2647.4406 )
• Hex:7 HexNAc:4 (avg mass : 1965.7921 )
• Hex:7 HexNAc:4 NeuAc:1 (avg mass : 2257.05 )
• Hex:7 HexNAc:4 dHex:1 (avg mass : 2111.9351 )
• Hex:7 HexNAc:4 dHex:1 NeuAc:1 (avg mass : 2403.193 )
• Hex:7 HexNAc:6 dHex:1 NeuAc:1 (avg mass : 2809.583 )
• Hex:7 HexNAc:7 dHex:1 NeuAc:1 (avg mass : 3012.778 )
• Hex:10 HexNAc:2 (avg mass : 2045.8293 )

Disease

• Hyper IgE syndrome (HIES, p.Glu340del) (DOID:0080545)

Reference

• Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels, (2014 - Atfa Sassi, Sandra Lazaroski, Gang Wu, Stuart M. Haslam, Manfred Fliegauf, Fethi Mellouli, Turkan Patiroglu, Ekrem Unal, Mehmet Akif Ozdemir, Zineb Jouhadi, Khadija Khadir, Leila Ben-Khemis, Meriem Ben-Ali, Imen Ben-Mustapha, Lamia Borchani, Dietmar Pfeifer, Thilo Jakob, Monia Khemiri, A. Charlotta Asplund, Manuela O. Gustafsson, Karin E. Lundin, Elin Falk-Sörqvist, Lotte N. Moens, Hatice Eke Gungor, Karin R. Engelhardt, Magdalena Dziadzio, Hans Stauss, Bernhard Fleckenstein, Rebecca Meier, Khairunnadiya Prayitno, Andrea Maul-Pavicic, Sandra Schaffer, Mirzokhid Rakhmanov, Philipp Henneke, Helene Kraus, Hermann Eibel, Uwe Kölsch, Sellama Nadifi, Mats Nilsson, Mohamed Bejaoui, Alejandro A. Schäffer, C.I. Edvard Smith, Anne Dell, Mohamed-Ridha Barbouche, Bodo Grimbacher) / Status : Reviewed

Reported glycosite

Mass spectrometry observed peptide