Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama)
| Autor: | Thomas W. Twele, Vibha Dave, Akira Yoshida, Ernest Beutler |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Adult
Male Erythrocytes Protein Conformation Lysine DNA Mutational Analysis Molecular Sequence Data Biology Exon Protein structure Complementary DNA Humans Molecular Biology Sequence Deletion chemistry.chemical_classification Phosphoglycerate kinase Base Sequence Nucleic acid sequence Genetic Variation Cell Biology Hematology Anemia Hemolytic Congenital Nonspherocytic Molecular biology Amino acid Kinetics Phosphoglycerate Kinase Enzyme chemistry Biochemistry Molecular Medicine |
| Zdroj: | Blood cells, moleculesdiseases. 21(3) |
| ISSN: | 1079-9796 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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