A new unstable and low oxygen affinity hemoglobin variant: Hb J-Auckland [beta 25(B7)Gly----Asp].
Hb J-Auckland is a new hemoglobin variant with the amino acid substitution beta 25(B7)Gly----Asp. It is mildly unstable and has a low oxygen affinity. The propositus and a son, both heterozygous for Hb J-Auckland, have marginally low Hb values but no apparent clinical symptoms.
D000595:Amino Acid Sequence; D001224:Aspartic Acid / Q000378:metabolism; D004338:Drug Combinations / Q000378:metabolism; D005998:Glycine / Q000378:metabolism; D006448:Hemoglobin J / Q000235:genetics / Q000302:isolation & purification* / Q000378:metabolism; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000302:isolation & purification* / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D010100:Oxygen / Q000378:metabolism*; D010446:Peptide Fragments; D010449:Peptide Mapping
D004338:Drug Combinations; D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; C053836:hemoglobin J Auckland; D001224:Aspartic Acid; D006448:Hemoglobin J; D010100:Oxygen; D005998:Glycine