Hemoglobin Pitie-Salpetriere beta 34 (B16) Val replaced by Phe. A new high oxygen affinity variant associated with familial erythrocytosis.
Hemoglobin Pitie-Salpetriere was detected by routine isoelectric focusing. It moved up on isoelectric focusing between hemoglobin A and hemoglobin F, near Hb F. On cellulose acetate strips at pH 8.6, it moved as hemoglobin A. This new variant exhibits a high oxygen affinity associated with familial erythrocytosis. The valine residue in position beta 34 has been replaced by a phenylalanine residue. This residue is involved in the alpha 1 beta 1 contact.
D000595:Amino Acid Sequence; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000302:isolation & purification; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D008875:Middle Aged; D010100:Oxygen / Q000097:blood; D010108:Oxyhemoglobins
D006455:Hemoglobins, Abnormal; D010108:Oxyhemoglobins; D010100:Oxygen