Table 2 Patients carrying AR gene pathogenic variants

From: Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients

Patient Exon Domain Mutations type c.DNA change
NM_000044.2
Protein change
NP_000035.2
EMS References
7a 7 LBD Missense c.2522G>A p.Arg841His 3 Hiort et al. 199 3[21];
Beitel et al. 199 4[22]; Imasaki et al. 199 4[23];
Evans et al. 199 7[24];
Audi et al. 201 0[14]
8a 7 LBD Missense c.2522G>A p.Arg841His 6 Hiort et al. 199 3[21];
Beitel et al. 199 4[22]; Imasaki et al. 199 4[23];
Evans et al. 199 7[24];
Audi et al. 201 0[14]
9a 7 LBD Missense c.2522G>A p.Arg841His 6 Hiort et al. 199 3[21];
Beitel et al 1994 [22]; Imasaki et al. 199 4[23];
Evans et al. 199 7[24];
Audi et al. 201 0[14]
10 3 DBD Missense c.1811T>A p.Ile604Asn 3 Elfferich et al. 200 9[20]
13 5 LBD Missense c.2191G>A p.Val731Met 6 Newmark et al. 199 2[25];
Sanchez et al. 200 6[26]
16 4 Hinge region Missense c.2014C>T p.Pro672Ser 6 Elfferich et al. 200 9[20]
18 5 LBD Missense c.2216A>G p.Gln739Arg 3 Elfferich et al. 200 9[20]
24 5 LBD Missense c.2191G>A p.Val731Met 6 Newmark et al. 199 2[25];
Sanchez et al. 200 6[26]
37 1 NTD Frameshift c.902dup p.Ser302Glufsa3 6 Juniarto et al. 201 2[16]
51 5 LBD Missense c.2191G>A p.Val731Met 6 Newmark et al. 199 2[25];
Sanchez et al. 200 6[26]
68a 7 LBD Missense c.2522G>A p.Arg841His 3 Hiort et al. 199 3[21];
Beitel et al. 199 4[22]; Imasaki et al. 199 4[23];
Evans et al. 1997 [24];
Audi et al. 201 0[14]
  1. aIndividuals are related