PLPMDB Mutant Example

MUTANT ACCESSION NUMBER: 414
PROTEIN NAME: Cystathionine beta-synthase (EC 4.2.1.22) (Serine sulfhydrase) (Beta-thionase).
SWISS PROT ENTRY: CBS_HUMAN
ORGANISM: HOMO SAPIENS HUMAN
GENE NAME: CBS
VARIANT OR MUTAGEN:Mutagen
PMD ENTRY: Null

MUTATIONS:
POINT Val 168 Met
DELETION Trp--Lys 409-550

EFFECTS: The activity of this truncated mutant enzyme, designated hereafter as V168M-C143, is sufficient to functionally complement the cystathionine -synthase deficiency in yeast and is reported to be 13-fold higher than that of the full-length mutant, V168M

REFERENCE:
PUBMED ID: 10531322
TITLE:Deletion of the regulatory domain in the pyridoxal phosphate-dependent heme protein cystathionine beta-synthase alleviates the defect observed in a catalytic site mutant.
AUTHOR:Kabil O, Banerjee R.
REFERENCE: J Biol Chem. 1999 Oct 29;274(44):31256-60.

3D STRUCTURE:1JBQ