PLPMDB Mutant Example

MUTANT ACCESSION NUMBER: 7
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 Pro 11 Leu
POINT Gly 170 Arg
POINT Ile 340 Met

EFFECTS: Unstable and aggregates into a inclusion body

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