[Hemoglobin Pyrgos beta 83 (EF 7) Gly leads to Asp in a Malian: structural identification and functional properties (author's transl)].
The second observation of hemoglobin Pyrogos is reported. This abnormality was initially described in a Greek family, in our case it concerns an African negro originating from the Republic of Mali. The abnormal hemoglobin was without clinical or hematological consequences. The structural defect is a substitution of an Asp for a Gly in the immediate vicinity of lysine beta 82. This leads to a large inhibition of the corresponding tryptic cleavage and therefore to difficulties in the determination of the mutation. A second feature is a slight modification occurring near one of the 2.3 DPG binding site. As a consequence, the regulatory effect of this organic phosphate is smaller in the purified and stripped component than on hemoglobin A.
D000595:Amino Acid Sequence; D001224:Aspartic Acid / Q000235:genetics; D001797:Blood Protein Electrophoresis; D055598:Chemical Phenomena; D002621:Chemistry; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
D006455:Hemoglobins, Abnormal; D001224:Aspartic Acid
Hémoglobine Pyrgos beta 83 (EF 7) Gly leads to Asp chez un Malien: identification structurale et propriétés fonctionnelles.