title: Hemoglobin Pontoise alpha63 Ala replaced by Asp(E12). A new fast moving variant.
abstract: The present report describes structural and functional studies of a new hemoglobin variant, Hb J Pontoise. This abnormal hemoglobin was discovered in a 36 year old Spanish man. The substitution of alpha63 (E12) Ala replaced by Asp is situated at an external site and appears to have no influence on the function of the hemoglobin. Nevertheless, it presents some instability in vitro, as demonstrated by the isopropanol test. This instability could partially explain the low percentage of the abnormal hemoglobin in the hemolysate (12%), since its rate of synthesis was normal.
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000596:Amino Acids / Q000032:analysis; D004163:Diphosphoglyceric Acids / Q000097:blood; D006441:Hemoglobin A; D006448:Hemoglobin J; D006455:Hemoglobins, Abnormal; D006801:Humans; D008297:Male; D010100:Oxygen / Q000097:blood; D010446:Peptide Fragments / Q000032:analysis; D011485:Protein Binding
chemical_list: D000596:Amino Acids; D004163:Diphosphoglyceric Acids; D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; D006448:Hemoglobin J; D006441:Hemoglobin A; D010100:Oxygen