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Literature summary 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)

EC Number Cloned (Comment) Organism
4.2.1.22 expressed in Escherichia coli Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
4.2.1.22 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
4.2.1.22 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
4.2.1.22 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
4.2.1.22 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
4.2.1.22 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
4.2.1.22 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
4.2.1.22 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
4.2.1.22 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
4.2.1.22 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)

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

Organism

EC Number Organism UniProt Comment Textmining
4.2.1.22 Homo sapiens
-
-
-

Substrates and Products (Substrate)

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

Synonyms

EC Number Synonyms Comment Organism
4.2.1.22 CBS
-
 Homo sapiens