Characterization of hemoglobin Würzburg (alpha2beta2 4(A1)Thr-->Asn), a new electrophoretically silent variant, by mass spectrometry and molecular modeling studies

J Chromatogr A. 2006 May 19;1115(1-2):118-24. doi: 10.1016/j.chroma.2006.02.082. Epub 2006 Mar 24.

Abstract

The first hemoglobin (Hb) variant carrying a mutation at beta4 was identified as beta4(A1)Thr-->Asn or Hb Würzburg and constituted 38% of the total hemoglobin. It showed a slightly elevated oxygen affinity and a slightly decreased cooperativity index (n50 = 2.3 versus n50 = 2.8). The analysis of the electrostatic potential showed an increased negative charge at the site of the mutation with a displacement of beta6(A3)Glu by 1.3A. The replacement of threonine by asparagine seems to stabilize the R conformation. This may explain partially both the high affinity and the reduction in cooperativity.

MeSH terms

  • Amino Acid Substitution
  • DNA / chemistry
  • Diabetes Mellitus, Type 2 / blood*
  • Female
  • Hemoglobins, Abnormal / chemistry*
  • Hemoglobins, Abnormal / genetics
  • Humans
  • Middle Aged
  • Models, Molecular
  • Spectrometry, Mass, Electrospray Ionization / methods*
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Würzburg
  • DNA