PLPMDB Mutant Example

MUTANT ACCESSION NUMBER: 597
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:Variant
PMD ENTRY: Null

MUTATIONS:
POINT Val 453 Glu

EFFECTS: Defects in CBS are a cause of homocystinuria [OMIM:236200].

REFERENCE:
PUBMED ID: 8528202
TITLE:A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
AUTHOR:Kruger WD, Cox DR.
REFERENCE:Hum Mol Genet. 1995 Jul;4(7):1155-61.

3D STRUCTURE:1JBQ