Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency

Table 1

Variations of the SRD5A2 genes detected in Indonesian cases of 5ARD2.

Variations	Base change	Subjects (n = 37)	Alleles (n = 74)
Point mutations
p.Arg50His^#	CGC–CAC	3	3
p.Val89Leu	GTA–CTA	26	43
p.Tyr128Cys	TAC–TGC	2	4
	TAC–TAA	1	1
p.Gly191Arg^#	GGA–AGA	1	1
p.Asn193Ser	AAT–AGT	1	1
p.Phe194Ile^#	TTC–ATC	3	5
p.Arg227Gln	CGA–CAA	3	4
p.Ile253Val^#	ATC–GTC	1	1
Frameshift mutations
c.34–38delGinsCCAGC^#	CTGGCAGGC–CTGCCAGCCAGGC	1	1
p.Gly34FsX40	TACGGGAAG–TACGGAAG	8	12
Intronic mutation
c.699-1 G>T	ttttagGTTC–ttttatGTTC	5	5
Total variations in alleles			81

^#New mutations.