MUTANT ACCESSION NUMBER: 8
PROTEIN NAME: Serine--pyruvate aminotransferase (EC 2.6.1.51) (SPT) (Alanine-- glyoxylate aminotransferase) (EC 2.6.1.44) (AGT).
SWISS PROT ENTRY:
SPYA_HUMAN
ORGANISM: HOMO SAPIENS HUMAN
GENE NAME: AGXT AGT1
VARIANT OR MUTAGEN:Mutagen
PMD ENTRY: A000318
MUTATIONS:
POINT Gly 170 Arg
EFFECTS: (disease-causing mutation)
Specific activity [-]
REFERENCE:
PUBMED ID:
10960483
TITLE:Functional synergism between the most common polymorphism in
human alanine:glyoxylate aminotransferase and four of the
most common disease-causing mutations.
AUTHOR:Lumb M.J. & Danpure C.J.
REFERENCE:J.Biol.Chem. (2000) 275(46), 36415-36422
3D STRUCTURE: Null
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