Skip to main content
. 2016 Mar 31;21(1):1–6. doi: 10.6065/apem.2016.21.1.1

Table 1. The mutations in CYP21A2 and their phenotypes according to their residual activities based on in vitro transfection assay.

Group A Group B Group C
Phenotype Salt-wasting Simple virilizing Nonclassic
In vitro activity of CYP21A2 0%–1% 1%–10% 20%–60%
Mutation Gene deletion/conversion p.I172N p.P30L
8 bp deletion E3 p.V281L
E6 cluster p.P453S
F306+t
L307insT
p.Q318*
p.R356W