title: Single amino acid substitution in important hemoglobinopathies does not disturb molecular function and biological process.
abstract: Hemoglobin is an important protein found in the red cells of many animals. In humans, the hemoglobin is mainly distributed in the red blood cell. Single amino acid substitution is the main pathogenesis of most hemoglobin disorders. Here, the author used a new gene ontology technology to predict the molecular function and biological process of four important hemoglobin disorders with single substitution. The four studied important abnormal hemoglobins (Hb) with single substitution included Hb S, Hb E, Hb C, and Hb J-Baltimore. Using the GoFigure server, the molecular function and biological process in normal and abnormal hemoglobins was predicted. Compared with normal hemoglobin, all studied abnormal hemoglobins had the same function and biological process. This indicated that the overall function of oxygen transportation is not disturbed in the studied hemoglobin disorders. Clinical findings of oxygen depletion in abnormal hemoglobin should therefore be due to the other processes rather than genomics, proteomics, and expression levels.
authors.affiliation: Department of Laboratory Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. wviroj@yahoo.com
authors.forename: Viroj
authors.initials: V
authors.lastname: Wiwanitkit
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D006453:Hemoglobinopathies / Q000235:genetics / Q000378:metabolism*; D006454:Hemoglobins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism*; D008969:Molecular Sequence Data; D020539:Sequence Analysis, Protein / Q000379:methods*; D013329:Structure-Activity Relationship
chemical_list: D006454:Hemoglobins