Article
The V108M mutation decreases the structural stability of catechol O-methyltransferase.
Biochimica et biophysica acta - 1 Jan 2000
Rutherford K, Alphandéry E, McMillan A, Daggett V, Parson W W
Abstract excerpt
The human gene for catechol O-methyltransferase has a common single-nucleotide polymorphism that results in substitution of methionine (M) for valine (V) 108 in the soluble form of the enzyme (s-COMT). 108M s-COMT loses enzymatic activity more rapidly than 108V s-COMT at physiological temperature, and the 108M allele has been associated with increased risk of breast cancer and several neuropsychiatric disorders....
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