title: Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama).
abstract: The molecular abnormality of a phosphoglycerate kinase variant associated with severe red cell enzyme deficiency ( about 4% of normal) and episodes of hemolysis with jaundice was examined. The Michaelis constants for the substrates and co-enzymes (1.3-diphosphoglycerate, 3-phosphoglycerate, ATP and ADP) were not grossly different from that of normal. However that variant enzyme was very labile in vitro. Nucleotide sequence analysis of the variant cDNA revealed a deletion of codon AAG in exon 7. The codon deletion should result in the election of one of the tandem lysine residues existing at amino acid 190-191 of the enzyme protein. Based on the three dimensional structure of the protein, molecular instability could could be induced by the deletion of a lysine residue.
authors.affiliation: Department of Biochemical Genetics, Beckman Institute of the City of Hope, Duarte, California, USA.
authors.forename: A
authors.initials: A
authors.lastname: Yoshida
authors.forename: T W
authors.initials: TW
authors.lastname: Twele
authors.forename: V
authors.initials: V
authors.lastname: Davé
authors.forename: E
authors.initials: E
authors.lastname: Beutler
mesh_terms: D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004912:Erythrocytes / Q000201:enzymology; D014644:Genetic Variation; D006801:Humans; D007700:Kinetics; D008297:Male; D008969:Molecular Sequence Data; D010735:Phosphoglycerate Kinase / Q000097:blood / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D011487:Protein Conformation; D017384:Sequence Deletion
chemical_list: D010735:Phosphoglycerate Kinase