Hb Fontainebleau [alpha 21(B2)Ala----pro], a new silent mutant hemoglobin.
Hb Fontainebleau [alpha 21(B2)Ala----Pro] was found in a family of Italian origin. This new variant has electrophoretic properties identical to those of Hb A with the exception of isoelectrofocusing in which it migrates like Hb A1c. The introduction of a prolyl residue at the beginning of the B helix in the alpha chain does not lead to a change in the stability or oxygen binding properties of the hemoglobin molecule.
Wajcman
H
H
INSERM U299, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France.
Blouquit
Y
Y
Gombaud-Saintonge
G
G
Riou
J
J
Galacteros
F
F
D000293:Adolescent; D000409:Alanine; D000595:Amino Acid Sequence; D005260:Female; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000302:isolation & purification; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011392:Proline
D006455:Hemoglobins, Abnormal; C062066:hemoglobin Fontainebleau; D011392:Proline; D000409:Alanine