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Band 3 Tokyo: Thr837-->Ala837 substitution in erythrocyte band 3 protein associated with spherocytic hemolysis.

Abstract
We report a case of spherocytosis associated with erythrocyte band 3 deficiency. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis of erythrocyte membrane proteins showed that the patient's band 3 was reduced to about 80% of the control level. Molecular analysis revealed that this quantitative alteration was accompanied by a novel base change at codon 837 (ACG-->GCG) of the AE1 gene, resulting in substitution of alanine for threonine. In bone marrow mononuclear cells, both mutant and wild-type mRNA were comparably detected, suggesting that this mutation interfered with band 3 processing or assembly, leading to impaired accumulation of mutant band 3 in the plasma membrane.
AuthorsS Iwase, H Ideguchi, M Takao, J Horiguchi-Yamada, M Iwasaki, S Takahara, T Sekikawa, S Mochizuki, H Yamada
JournalActa haematologica (Acta Haematol) Vol. 100 Issue 4 Pg. 200-3 ( 1998) ISSN: 0001-5792 [Print] Switzerland
PMID9973643 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Anion Exchange Protein 1, Erythrocyte
  • Threonine
  • Alanine
Topics
  • Adult
  • Alanine (genetics)
  • Amino Acid Substitution (genetics)
  • Anion Exchange Protein 1, Erythrocyte (deficiency, genetics)
  • Humans
  • Male
  • Point Mutation
  • Spherocytosis, Hereditary (blood, genetics)
  • Threonine (genetics)

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