Article
Hb Montfermeil [beta 130(H8) Tyr-->Cys]: suggests a key role for the interaction between helix A and H in oxygen affinity of the hemoglobin molecule.
Blood cells, molecules & diseases - 1 Jan 2000
Kister Jean, Baudin-Creuza Véronique, Kiger Laurent, Préhu Claude, Papassotiriou Ioannis, Riou Jean, Galactéros Frédéric, Wajcman Henri
Abstract excerpt
Hb Montfermeil [beta130(H8) Tyr-->Cys] is a high oxygen affinity variant causing erythrocytosis. The cysteine replacement is buried in the inside of the beta chain where it alters the interactions between helix A and H, with a further effect on helix E. This position has already been proposed to contribute to the difference in oxygen affinity between human and bovine hemoglobins. Three dimensional structural...
Topics
- Amino Acid Sequence
- Amino Acid Substitution
- Chromatography, High Pressure Liquid
- Genetic Variation
- Hemoglobins, Abnormal
- Humans
- Male
- Middle Aged
- Models, Molecular
- Mutation, Missense
