Table 2.

Reported mutations to date in patients with 17beta-HSD3 deficiency

Mutation	Molecular lesion	Type
S65L	Exon 2	Missense
325+4, A>T	Intron 3	Splice junction
326−1;G>C	Intron 3	Splice junction
R80Q / R80W a	Exon 3	Missense
Q176P	Exon 8	Missense
655−1;G>A	Intron 8	Splice junction
E215D	Exon 9	Missense
F2081	Exon 9	Missense
A203V	Exon 9	Missense
V205E	Exon 9	Missense
Del 777-783	Exon 10	Deletion
S232L	Exon 10	Missense
C268Y b	Exon 10	Missense
P282L	Exon 11	Missense
M235V	Exon 12	Missense
G289S c	Exon 3	SNP*
N130S c	Exon 5	Missense
A188V d	Exon 8	Missense
A56T c	Exon 2	Missense
N74T d	Exon 3	Missense

Above mutations were previously reported on by Andersson et al. (7) except where indicated.

^aReported by Bilbao et al. (12)

^bReported by Lindqvist et al. (11)

^cReported by Moghrabi et al. (14)

^dReported by Boehmer et al. (13)

^*SNP; single nucleotide polymorphism