Research Article

Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

Table 2

Apparent kinetic constants using 17-OHP as substrate.

(pmol/mg protein per min) (µM)/

Wild type519 (93)12.5 (1.3)42 (9)
p.Leu12Met618 (207)17.7 (5.2)35 (4)
p.Ala15Thr671 (145)16.9 (6.5)42 (8)
p.Arg16Cys181 (31)5.0 (1.1)37 (3)
p.Ser101Asn326 (67)9.7 (2.0)34 (4)
p.Ser202Gly244 (47)8.0 (1.5)31 (5)
p.Pro267Leu320 (93)8.4 (1.9)38 (7)
p.Thr450Met43 (5)1.2 (0.1)35 (5)

Values are present as the mean (1SD) of at least four experiments.