Data · dataset · 2026
Glycoproteomic and genetic dataset of two siblings with ALG1‑CDG
Listed in ScienceDB
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.
Description
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.
Links
Where it is published
- DOI doi.org/10.57760/sciencedb.0110e ↗
DOI / persistent id · from scidb cn
Catalogue records · 1
- OAI-PMH record scidb.cn/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=10.57760%2… ↗
metadata API · from scidb cn
Topics
- From keywords
- Earth & Environmental Science · Engineering · Humanities · Life Sciences · Social Science
- Inferred from text
- Genetics 71% · Mass spectrometry 75% · Sequencing 75%
Provenance · 1 source records, 13 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| ScienceDB | 10.57760/sciencedb.0110e | 12 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].anzsrc:group:3105 | enrichment · scidb cn | taxonomy-embedding@1.0.0 | title+keywords+description (71%) |
| concepts[field].local:field:earth-environmental | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:engineering | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:humanities | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:social-science | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[modality].local:modality:mass-spectrometry | enrichment · scidb cn | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:sequencing | enrichment · scidb cn | keyword-concept-rules@1.0.0 | title+description (75%) |
| description | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/description |
| license | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/rights |
| publication_date | source · scidb cn | connector:scidb_cn@1.0.0 | |
| title | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/title |