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Table 4 AR gene mutations in 39 AIS patients

From: Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients

AISSexAge (yr)Testis positionMutationNovelExonAmino AcidPolyPhen-2Family history
C1F1.3inguinal regionc.2107 T > CY4, LBDp. Ser 703 Pro1.000Y
C2F1.6abdomenc.2107 T > CY4, LBDp. Ser703 Pro1.000Y
C3F0.4inguinal regionc.2740C > GY8, LBDp. Pro 914 Ala0.609n.a
C4F1.1inguinal regionc.2351A > GY6, LBDp. Gln 784 Arg0.998n.a
C5F2.6inguinal regionc.2024 T > A,Y4, LBDp.Leu675Gln0.999n.a
C6F4.4inguinal regionc.2522G > AN7, LBDp.Arg841His1.000Y
C7F2.1abdomenc.1768 + 1G > CYIntronChange the shearing modeUN
C8F2.9inguinal regionc.2567G > AN7, LBDp. Arg 856 His1.000n.a
C9F2.3abdomenc.1684A > TY2, DBDp.Ile562Phe0.999n.a
C10F1inguinal regionc.2522G > AN7, LBDp.Arg841His1.000Y
C11F3.8inguinal regionc.2086G > AN4, LBDp.Asp696Asn0.999N
C12F3.8inguinal regionc.2324G > AN6, LBDp.Arg775His1.000N
C13F1.8inguinal regionc.2645 T > CN8, LBDp.Leu882Pro1.000Y
C14F13.7abdomenc.2117A > GN4, LBDp.Asn706Ser0.999Y
C15F2.1inguinal regionc.2522G > AN7, LBDp.Arg841His1.000n.a
C16F1.2inguinal regionc.2290 T>CN5, LBDp.Tyr764His1.000Y
C17F2.8abdomenc.2678C > TN8, LBDp.Pro893Leu1.000Y
C18F10.8inguinal regionc.1858 T > CN3, DBDp. Cys620Arg1.000Y
C19F1.4inguinal regionc.1415_1416insCGGCY1, NTDp. Gly 472 fsUY
P1M6.8inguinal regionc.2612C > GN8, LBDp.Ala871Gly0.999n.a
P2M1scrotumc.2521C > TN7, LBDp.Arg841Cys,1.000n.a
P3M1.5inguinal regionc.1063G > TN1, NTDp.Glu355TermUY
P4M1.9scrotumc.2104C > AN4, LBDp.Leu702Ile0.995Y
P5M1.9scrotumC.528C>AN1, NTDp.Ser176Arg0.842n.a
P6M1.1scrotumc.2612C > TN8, LBDp.Ala871Val0.994Y
P7M1.6scrotumc.2531C > AN7, LBDp.Ala844Glu0.989n.a
P8M0.9scrotumc.2531C > AN7, LBDp.Ala844Glu0.989n.a
P9M1scrotumc.2338C > TN6, LBDp.Arg780Trp1.000Y
P10M9.7scrotumc.528C > AN1, NTDp.Ser176Arg0.842n.a
P11M1,4inguinal regionc.2221 T > AY5, LBDp.Ser741Thr0.555Y
P12M2.4abdomenc.1705G > TN2, DBDp.Gly569Trp1.000n.a
P13M1inguinal regionc.2567G > AN7, LBDp. Arg 856 His1.000n.a
P14M1.8inguinal regionc.2441 T > AY6, LBDp. Phe814Tyr0.999n.a
P15M1.1scrotumc.2638G > T,N8, LBDp. Asp880 Tyr1.000Y
P16F1.2inguinal regionc.2450-42G > AY7, LBDUUY
P17F1.7scrotumc.2450-42G > AY7, LBDUUY
P18M6.7inguinal region1823G > AN3, DBDp.Arg608Gln1.000Y
P19M10.7inguinal regionc.170_172dupN1, NTDp.Leu57dupUY
P20F1.3inguinal regionc.2740C > TN8, LBDp.Pro914Ser0.996Y
  1. F Female, M Male, n.a. data not available, P Positive, N Negative or no, Y Yes, U Unknown, LBD Ligand-binding domain, NTD N-terminal domain, DBD DNA-binding domain