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Literature summary for 4.2.1.22 extracted from

  • Hnizda, A.; Jurga, V.; Rakova, K.; Kozich, V.
    Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts (2012), J. Inherit. Metab. Dis., 35, 469-477.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
expressed in Escherichia coli Homo sapiens

Protein Variants

Protein Variants Comment Organism
A114V the mutant in the active core has slightly increased urea unfolding with decreased stability and shows 76.9% activity compared to the wild type enzyme Homo sapiens
D444N the mutant with substitution in the C-terminal regulatory domain shows increased global stability with decreased flexibility and shows 163.8% activity compared to the wild type enzyme Homo sapiens
E302K the mutant in the active core has slightly increased urea unfolding with decreased stability and shows 95.4% activity compared to the wild type enzyme Homo sapiens
G307S the mutant in the active core has slightly increased urea unfolding with decreased stability and shows 0.2% activity compared to the wild type enzyme Homo sapiens
H65R the mutant in the active core has extensive urea unfolding with decreased stability and shows 3.9% activity compared to the wild type enzyme Homo sapiens
I278T the mutant in the active core has extensive urea unfolding with decreased stability and shows 0.3% activity compared to the wild type enzyme Homo sapiens
R369C the mutant in the active core has extensive urea unfolding with decreased stability and shows 1.8% activity compared to the wild type enzyme Homo sapiens
R439Q the mutant with substitution in the C-terminal regulatory domain shows increased global stability with decreased flexibility and shows 117.2% activity compared to the wild type enzyme Homo sapiens
T191M the mutant in the active core has extensive urea unfolding with decreased stability and shows 0.3% activity compared to the wild type enzyme Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
L-serine + L-homocysteine Homo sapiens
-
L-cystathionine + H2O
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
L-serine + L-homocysteine
-
Homo sapiens L-cystathionine + H2O
-
?

Synonyms

Synonyms Comment Organism
CBS
-
Homo sapiens