Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow

Acta Biochim Pol. 2007;54(4):877-81. Epub 2007 Dec 8.

Abstract

We present three novel mutations in the G6PD gene and discuss the changes they cause in the 3-dimensional structure of the enzyme: 573C-->G substitution that predicts Phe to Leu at position 191 in the C-terminus of helix alphae, 851T-->C mutation which results in the substitution 284Val--> -->Ala in the beta+alpha domain close to the C-terminal part of helix alphaj, and 1175T-->C substitution that predicts Ile to Thr change at position 392.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Female
  • Glucosephosphate Dehydrogenase / chemistry
  • Glucosephosphate Dehydrogenase / genetics*
  • Hemolysis / genetics*
  • Humans
  • Male
  • Models, Molecular
  • Mutation, Missense*
  • Polymerase Chain Reaction
  • Protein Conformation

Substances

  • Glucosephosphate Dehydrogenase