Hemoglobin Fannin-Lubbock [alpha2 beta 2 119 (GH2) Gly replaced by Asp]. A new hemoglobin variant at the alpha1 beta 1 contact.
Hemoglobin Fannin-Lubbock was found in a 9-year-old Mexican-American female. The abnormal hemoglobin was detected as a fast-moving variant by electrophoresis on cellulose acetate at pH 8.4. Structural analysis indicated a substitution in the beta-chain of aspartic acid for glycine at position 119, a position involved in the alpha1beta1 contact of the hemoglobin tetramer. This contact between unlike chains is larger and undergoes a smaller shift during the process of oxygenation and deoxygenation that the alpha1beta2 contact (Perutz, M.F., Muirhead, H., Cox, J.M. and Goaman, L.C.G. (1968) Nature 219, 131-139). Mutations in this contact tend to cause slight or no changes in functional behavior. Apart from a mild anemia, the propositus did not exhibit any obvious clinical symptoms.
D000596:Amino Acids / Q000032:analysis; D002648:Child; D004163:Diphosphoglyceric Acids / Q000097:blood; D004588:Electrophoresis, Cellulose Acetate; D005260:Female; D014644:Genetic Variation; D006441:Hemoglobin A; D006455:Hemoglobins, Abnormal; D006801:Humans; D006863:Hydrogen-Ion Concentration; D046911:Macromolecular Substances; D008297:Male; D010375:Pedigree; D011485:Protein Binding
D000596:Amino Acids; D004163:Diphosphoglyceric Acids; D006455:Hemoglobins, Abnormal; D046911:Macromolecular Substances; D006441:Hemoglobin A