Band 3 Tuscaloosa: Pro327----Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2.

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Article

Band 3 Tuscaloosa: Pro327----Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2.

Blood - 15 Jul 1992

Jarolim P, Palek J, Rubin H L, Prchal J T, Korsgren C, Cohen C M

Abstract excerpt

Protein 4.2 is a major red blood cell (RBC) protein that interacts with the band 3 protein and with ankyrin. Inherited deficiencies of this protein are associated with spherocytic hemolytic anemia, but the molecular basis of this defect is unknown. We have studied the underlying defect in a patient with spherocytic hemolytic anemia whose RBCs had a partial (29% +/- 5%) deficiency of protein 4.2. We have first...

Topics

Amino Acid Sequence
Anemia, Hemolytic
Animals
Anion Exchange Protein 1, Erythrocyte
Ankyrins
Arginine
Base Sequence
Blood Proteins
Cytoskeletal Proteins
DNA
Erythrocyte Membrane

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Humans

Kinetics

Male

Membrane Proteins

Molecular Sequence Data

Mutation

Source

Open in PubMed

Identifiers

PMID: 1378323

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1378323-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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