Table 2.

Polymorphisms and Their Consequences

Nucleotide Transition*Amino Acid TransitionFunctional ConsequenceRef.
−1001C/TPossible promoter alteration(112)
−263G/APossible promoter alteration(112)
13C/TPossible promoter alteration(112)
142C/GR48GIncreased basal CYP1B1 gene expression(109)
No alterations in CYP1B1 catalytic properties(108)
355G/TA119SIncreased basal CYP1B1 gene expression(109)
No alterations in CYP1B1 catalytic properties(108)
4326C/GL432VSignificant increase in CYP1B1 gene expression during AhR signaling events.(109)
Alter heme binding domain and increased catalytic activity of enzyme with the V substitution(90, 110, 111)
4390A/GN453SSignificant decrease in protein expression due to an increase in CYP1B1 degradation efficiency by proteolysis.(50)
  • NOTE: Summary of selected polymorphisms within CYP1B1 and their functional consequences.

  • * Numbering corresponds to transcription start site.

  • Numbering corresponds to the amino acid in the expressed protein.