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PMID:7391028

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Citation

Fujii, H, Krietsch, WK and Yoshida, A (1980) A single amino acid substitution (Asp leads to Asn) in a phosphoglycerate kinase variant (PGK München) associated with enzyme deficiency. J. Biol. Chem. 255:6421-3

Abstract

The structural abnormality of the phosphoglycerate kinase variant, PGK München, associated with red cell enzyme deficiency and heat instability, was elucidated by a microscale peptide-mapping method. A single amino acid substitution, from aspartic acid in the normal enzyme to asparagine in the variant enzyme, was found. From the known amino acid sequence of normal human phosphoglycerate kinase, the substitution is in the aspartic acid residue located at 268th position from the NH2-terminal of the protein.

Links

PubMed

Keywords

Amino Acid Sequence; Amino Acids/analysis; Asparagine/analysis; Aspartic Acid/analysis; Erythrocytes/enzymology; Genetic Variation; Humans; Metabolism, Inborn Errors/enzymology; Peptides/analysis; Phosphoglycerate Kinase/analysis; Phosphoglycerate Kinase/deficiency; Phosphoglycerate Kinase/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:PGK1

involved_in

GO:0006096: glycolytic process

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:PGK1

enables

GO:0004618: phosphoglycerate kinase activity

ECO:0000315: mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

Notes

See also

References

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