PLPMDB Mutant Example

MUTANT ACCESSION NUMBER: 85
PROTEIN NAME: 5-aminolevulinic acid synthase, erythroid-specific, mitochondrial precursor (EC 2.3.1.37) (Delta-aminolevulinate synthase) (Delta-ALA synthetase) (ALAS-E).
SWISS PROT ENTRY: HEM0_MOUSE
ORGANISM: MUS MUSCULUS MOUSE
GENE NAME: ALAS2
VARIANT OR MUTAGEN:Mutagen
PMD ENTRY: A980291

MUTATIONS:
POINT Asp 279 Ala

EFFECTS: Change in the cofactor binding mode (by UV-visible and CD spectroscopy) FUNCTION Enzyme activity [0]: Kd for glycine [+] and ALA [+]: Kd for thec ofactor PLP [+]: Ability to catalyze the formation of a quinonoid intermediate upon binding of ALA [0] (This partial reaction is rescued in D279A by reconstitution of the mutant with the cofactor analogue N-methyl-PLP.)

REFERENCE:
PUBMED ID: 9521672
TITLE:Aspartate-279 in aminolevulinate synthase affects enzyme catalysis through enhancing the function of the pyridoxal 5''-phosphate cofactor.
AUTHOR:Gong J, Hunter GA, Ferreira GC.
REFERENCE:Biochemistry. 1998 Mar 10;37(10):3509-17.

3D STRUCTURE: Null