RHCE*01 (c.499A>G, p.Met167Val) allele: Weak RhE expression which does not require the E-specific proline 226

Transfusion. 2021 Feb;61(2):E18-E20. doi: 10.1111/trf.16247. Epub 2021 Jan 5.
No abstract available

Keywords: RHCE*ce alleles; discrepancy; impact prediction; phenotype.

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Anemia, Sickle Cell / therapy
  • Black People / genetics
  • Blood Transfusion
  • Epitopes / chemistry
  • Epitopes / genetics
  • Female
  • Gene Expression Regulation
  • Haplotypes / genetics
  • Humans
  • Isoantibodies / immunology
  • Phenotype
  • Point Mutation*
  • Polymorphism, Single Nucleotide*
  • Pregnancy
  • Proline
  • Rh-Hr Blood-Group System / biosynthesis
  • Rh-Hr Blood-Group System / genetics*
  • Rh-Hr Blood-Group System / immunology
  • White People / genetics

Substances

  • Epitopes
  • Isoantibodies
  • RHCE protein, human
  • Rh-Hr Blood-Group System
  • Proline