Maturity-onset diabetes of the young type 3

Taxonomy

• Homo sapiens (Human)

Protein

Source

• Blood Serum (UBERON_0001977)  

Reported structure

• N-Linked / Complex / Structure 10725
• N-Linked / Complex / Structure 10785
• N-Linked / Complex / Structure 10693
• N-Linked / Complex / Structure 10752
• N-Linked / Complex / Structure 10791
• N-Linked / Complex / Structure 10748
• N-Linked / Complex / Structure 10805
• N-Linked / Complex / Structure 10803
• N-Linked / Complex / Structure 10774
• N-Linked / Complex / Structure 10751

Composition

• Hex:5 HexNAc:5 dHex:1 NeuAc:2 (avg mass : 2573.3611 )
• Hex:6 HexNAc:5 NeuAc:2 (avg mass : 2589.3605 )
• Hex:6 HexNAc:5 NeuAc:3 (avg mass : 2880.6184 )
• Hex:6 HexNAc:5 dHex:1 NeuAc:2 (avg mass : 2735.5035 )
• Hex:6 HexNAc:5 dHex:1 NeuAc:3 (avg mass : 3026.7614 )
• Hex:7 HexNAc:6 NeuAc:2 (avg mass : 2954.6979 )
• Hex:7 HexNAc:6 NeuAc:3 (avg mass : 3245.9558 )
• Hex:7 HexNAc:6 NeuAc:4 (avg mass : 3537.2137 )
• Hex:7 HexNAc:6 dHex:1 NeuAc:3 (avg mass : 3392.0988 )

Disease

• Maturity-onset diabetes of the young type 3 (DOID:0111102)

Reference

• Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis (2021 - Luisa Sturiale, Marie-Cécile Nassogne, Angelo Palmigiano, Angela Messina, Immacolata Speciale, Rosangela Artuso, Gaetano Bertino, Nicole Revencu, Xavier Stephénne, Cristina De Castro, Gert Matthijs, Rita Barone, Jaak Jaeken, Domenico Garozzo) / Status : Reviewed

Reported glycosite

Mass spectrometry observed peptide