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Article

Protein stability changes of the novel p.Arg180Cys mutant A glycosyltransferase resulted in a weak A phenotype.

Vox sanguinis - 1 Nov 2016

Lee H-S, Choi K-M, Won E J, Thi Phan M-T, Lee S Y, Shin D-J, Chun S, Park G, Kim S-K, Lee K-B, Lee H-J, Cho D

Abstract excerpt

A novel A subgroup allele (c.538C>T p.Arg180Cys) showing weak A phenotype was found in a 30-year-old Korean woman with ABO discrepancy. Using 3D structural analysis, protein stability prediction and flow cytometric analysis of ABO antigen expression on HeLa cells transfected with plasmids containing the p.Arg180Cys mutant, we found that the Arg180 residue in the loop region of the A glycosyltransferases (GTA)...

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PMID: 27538125
DOI: 10.1111/vox.12440

Genes

ABO

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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