Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site

Blood. 1992 Aug 1;80(3):809-15.

Abstract

Spectrin Jendouba (alpha II/31) was found in a Tunisian family. In the heterozygous state, it is associated with asymptomatic elliptocytosis and a minimal defect in spectrin dimer self-association. On partial digestion of spectrin with trypsin, an abnormal cleavage appeared following Lys 788. Peptide and DNA sequencing indicated that the responsible mutation is alpha 791 Asp----Glu (GAC----GAA). As in most alpha-spectrin variants associated with elliptocytosis, the change alters helix 3 of the proposed triple helical model of spectrin structure. Modified helix 3 in repeat alpha 8 is the most distant from the N-terminus of alpha-spectrin in known variants associated with elliptocytosis.

Publication types

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

MeSH terms

  • Alleles
  • Base Sequence
  • Child
  • Electrophoresis, Gel, Two-Dimensional
  • Electrophoresis, Polyacrylamide Gel
  • Elliptocytosis, Hereditary / blood
  • Elliptocytosis, Hereditary / genetics*
  • Exons
  • Female
  • Genetic Variation
  • Humans
  • Macromolecular Substances
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Oligodeoxyribonucleotides
  • Pedigree
  • Phenotype
  • Spectrin / genetics*
  • Spectrin / isolation & purification
  • Spectrin / metabolism

Substances

  • Macromolecular Substances
  • Oligodeoxyribonucleotides
  • Spectrin