Hb Godavari [alpha 95(G2)Pro-->Thr]: a neutral amino acid substitution in the alpha 1 beta 2 interface that modifies the electrophoretic mobility of hemoglobin.
Hb Godavari [alpha 95(G2)Pro-->Thr] was characterized independently in two families of different ethnic origin. The first case, found in the Netherlands, involved an Indian patient. The second one was identified a few months later in an African family from Mali, living in France. Hb Godavari is the fourth example of a substitution involving neutral residues at position alpha 95(G2). In all these variants the electrophoretic pattern suggested that the structural modification unmasks a charged residue buried in the alpha 1 beta 2 contact area. The oxygen affinity of this abnormal hemoglobin was approximately 10% higher than that of Hb A; in the absence of 2,3-diphosphoglycerate, its cooperativity was moderately decreased, suggesting a slightly unstable T state.
Wajcman
H
H
INSERM U91 and Department of Biochemistry, Hôpital Henri Mondor, Créteil, France.
Kister
J
J
Riou
J
J
Galactéros
F
F
Girot
R
R
Maier-Redelsperger
M
M
Nayudu
N V
NV
Giordano
P C
PC
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D002675:Child, Preschool; D004587:Electrophoresis, Agar Gel; D004588:Electrophoresis, Cellulose Acetate; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism* / Q000502:physiology; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing; D008297:Male; D010100:Oxygen / Q000097:blood; D010375:Pedigree; D017354:Point Mutation; D011392:Proline / Q000235:genetics; D013912:Threonine / Q000235:genetics
D006455:Hemoglobins, Abnormal; C111397:hemoglobin Godavari; D013912:Threonine; D011392:Proline; D010100:Oxygen