title: Protein stability changes of the novel p.Arg180Cys mutant A glycosyltransferase resulted in a weak A phenotype.
abstract: 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) structure plays significant role in stabilizing its closed conformation, which is required for substrate binding and catalysis study.
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, South Korea.
authors.forename: H-S
authors.initials: HS
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.|Department of Biological Engineering, Graduate School of Konkuk University, Seoul, South Korea.
authors.forename: K-M
authors.initials: KM
authors.lastname: Choi
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, South Korea.
authors.forename: E J
authors.identifier: http://orcid.org/0000-0002-8750-4257
authors.initials: EJ
authors.lastname: Won
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, South Korea.|Center for Creative Biomedical Scientists, Chonnam National University, Gwangju, South Korea.
authors.forename: M-T
authors.initials: MT
authors.lastname: Thi Phan
authors.affiliation: Department of Medical System Engineering, Gwangju Institute of Science and Technology (GIST), Gwangju, South Korea.
authors.forename: S Y
authors.initials: SY
authors.lastname: Lee
authors.affiliation: Department of Companion & Laboratory Animal Science, Kongju National University, Yesan, South Korea.
authors.forename: D-J
authors.initials: DJ
authors.lastname: Shin
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: S
authors.initials: S
authors.lastname: Chun
authors.affiliation: Department of Laboratory Medicine, Chosun University College of Medicine, Gwangju, South Korea.
authors.forename: G
authors.initials: G
authors.lastname: Park
authors.affiliation: Department of Companion & Laboratory Animal Science, Kongju National University, Yesan, South Korea.
authors.forename: S-K
authors.initials: SK
authors.lastname: Kim
authors.affiliation: Advanced Analysis Center and Green City Technology Institute, Korea Institute of Science and Technology, Seoul, South Korea.
authors.forename: K-B
authors.initials: KB
authors.lastname: Lee
authors.affiliation: Department of Structural Biology, St Jude Children's Research Hospital, Memphis, TN, USA.
authors.forename: H-J
authors.initials: HJ
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: D
authors.initials: D
authors.lastname: Cho
mesh_terms: D000017:ABO Blood-Group System / Q000235:genetics; D000328:Adult; D004795:Enzyme Stability; D005260:Female; D056726:Genetic Association Studies; D006367:HeLa Cells; D006801:Humans; D020125:Mutation, Missense; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D010641:Phenotype; D017422:Sequence Analysis, DNA
chemical_list: D000017:ABO Blood-Group System; D017350:N-Acetylgalactosaminyltransferases
keywords: RBC antigens and antibodies; blood groups; genetics; genotyping; immunogenetics