2026-10-14T20:28:10Z https://www.scidb.cn/oai

10.57760/sciencedb.0110e 2026-09-03T09:27:33Z

2026-09-03 Glycoproteomic and genetic dataset of two siblings with ALG1‑CDG doi:10.57760/sciencedb.0110e en This dataset supports the acceptance of pending papers in the Biomolecules journal, including cDNA sequencing analysis results of two Chinese ALG1-CDG sibling patients, serum transferrin glycoproteome LC-MS/MS mass spectrometry data, and in vitro enzyme activity experiment data of yeast Alg1 mutant. Identify the compound heterozygous variant c.1129A>C (p.Met377Leu) and the splicing variant c.1263+3A>T, the latter of which produces a p.Cys396X truncated mutation. There is no patient personal identification information in the data. The experiment used pGlyco3 and MSFragger for glycopeptide analysis, and UPLC-MS for enzyme activity measurement. The data set contains variation statistical tables, sugar type quantification, site occupancy, original enzyme activity readings, original gel pictures and readme description documents.  Congenital disorders of glycosylation; ALG1; splicing variant; glycoproteomics; enzyme activity assay Wei Dong-Zhi Wang Hui Peng Sen-Lin Huang Yu Yang Ganglong Dong Weijie Gao Xiaodong wang ning PUBLIC https://creativecommons.org/licenses/by/4.0/ dataset Science Data Bank