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

• Published in: Vox sanguinis Vol. 111; no. 4; pp. 441 - 444
• Main Authors: 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.
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01.11.2016; S. Karger AG
• Subjects: ABO Blood-Group System - genetics; Adult; blood groups; Blood transfusions; Enzyme Stability; Enzymes; Female; Flow cytometry; Genetic Association Studies; genetics; Genotype & phenotype; genotyping; HeLa Cells; Humans; immunogenetics; Mutation, Missense; N-Acetylgalactosaminyltransferases - genetics; Phenotype; Proteins; RBC antigens and antibodies; Sequence Analysis, DNA; blood groups; immunogenetics; genetics; RBC antigens and antibodies; genotyping

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 contain...