Table 4.
AR gene mutations in 39 AIS patients
| AIS | Sex | Age (yr) | Testis position | Mutation | Novel | Exon | Amino Acid | PolyPhen-2 | Family history |
|---|---|---|---|---|---|---|---|---|---|
| C1 | F | 1.3 | inguinal region | c.2107 T > C | Y | 4, LBD | p. Ser 703 Pro | 1.000 | Y |
| C2 | F | 1.6 | abdomen | c.2107 T > C | Y | 4, LBD | p. Ser703 Pro | 1.000 | Y |
| C3 | F | 0.4 | inguinal region | c.2740C > G | Y | 8, LBD | p. Pro 914 Ala | 0.609 | n.a |
| C4 | F | 1.1 | inguinal region | c.2351A > G | Y | 6, LBD | p. Gln 784 Arg | 0.998 | n.a |
| C5 | F | 2.6 | inguinal region | c.2024 T > A, | Y | 4, LBD | p.Leu675Gln | 0.999 | n.a |
| C6 | F | 4.4 | inguinal region | c.2522G > A | N | 7, LBD | p.Arg841His | 1.000 | Y |
| C7 | F | 2.1 | abdomen | c.1768 + 1G > C | Y | Intron | Change the shearing mode | U | N |
| C8 | F | 2.9 | inguinal region | c.2567G > A | N | 7, LBD | p. Arg 856 His | 1.000 | n.a |
| C9 | F | 2.3 | abdomen | c.1684A > T | Y | 2, DBD | p.Ile562Phe | 0.999 | n.a |
| C10 | F | 1 | inguinal region | c.2522G > A | N | 7, LBD | p.Arg841His | 1.000 | Y |
| C11 | F | 3.8 | inguinal region | c.2086G > A | N | 4, LBD | p.Asp696Asn | 0.999 | N |
| C12 | F | 3.8 | inguinal region | c.2324G > A | N | 6, LBD | p.Arg775His | 1.000 | N |
| C13 | F | 1.8 | inguinal region | c.2645 T > C | N | 8, LBD | p.Leu882Pro | 1.000 | Y |
| C14 | F | 13.7 | abdomen | c.2117A > G | N | 4, LBD | p.Asn706Ser | 0.999 | Y |
| C15 | F | 2.1 | inguinal region | c.2522G > A | N | 7, LBD | p.Arg841His | 1.000 | n.a |
| C16 | F | 1.2 | inguinal region | c.2290 T>C | N | 5, LBD | p.Tyr764His | 1.000 | Y |
| C17 | F | 2.8 | abdomen | c.2678C > T | N | 8, LBD | p.Pro893Leu | 1.000 | Y |
| C18 | F | 10.8 | inguinal region | c.1858 T > C | N | 3, DBD | p. Cys620Arg | 1.000 | Y |
| C19 | F | 1.4 | inguinal region | c.1415_1416insCGGC | Y | 1, NTD | p. Gly 472 fs | U | Y |
| P1 | M | 6.8 | inguinal region | c.2612C > G | N | 8, LBD | p.Ala871Gly | 0.999 | n.a |
| P2 | M | 1 | scrotum | c.2521C > T | N | 7, LBD | p.Arg841Cys, | 1.000 | n.a |
| P3 | M | 1.5 | inguinal region | c.1063G > T | N | 1, NTD | p.Glu355Term | U | Y |
| P4 | M | 1.9 | scrotum | c.2104C > A | N | 4, LBD | p.Leu702Ile | 0.995 | Y |
| P5 | M | 1.9 | scrotum | C.528C>A | N | 1, NTD | p.Ser176Arg | 0.842 | n.a |
| P6 | M | 1.1 | scrotum | c.2612C > T | N | 8, LBD | p.Ala871Val | 0.994 | Y |
| P7 | M | 1.6 | scrotum | c.2531C > A | N | 7, LBD | p.Ala844Glu | 0.989 | n.a |
| P8 | M | 0.9 | scrotum | c.2531C > A | N | 7, LBD | p.Ala844Glu | 0.989 | n.a |
| P9 | M | 1 | scrotum | c.2338C > T | N | 6, LBD | p.Arg780Trp | 1.000 | Y |
| P10 | M | 9.7 | scrotum | c.528C > A | N | 1, NTD | p.Ser176Arg | 0.842 | n.a |
| P11 | M | 1,4 | inguinal region | c.2221 T > A | Y | 5, LBD | p.Ser741Thr | 0.555 | Y |
| P12 | M | 2.4 | abdomen | c.1705G > T | N | 2, DBD | p.Gly569Trp | 1.000 | n.a |
| P13 | M | 1 | inguinal region | c.2567G > A | N | 7, LBD | p. Arg 856 His | 1.000 | n.a |
| P14 | M | 1.8 | inguinal region | c.2441 T > A | Y | 6, LBD | p. Phe814Tyr | 0.999 | n.a |
| P15 | M | 1.1 | scrotum | c.2638G > T, | N | 8, LBD | p. Asp880 Tyr | 1.000 | Y |
| P16 | F | 1.2 | inguinal region | c.2450-42G > A | Y | 7, LBD | U | U | Y |
| P17 | F | 1.7 | scrotum | c.2450-42G > A | Y | 7, LBD | U | U | Y |
| P18 | M | 6.7 | inguinal region | 1823G > A | N | 3, DBD | p.Arg608Gln | 1.000 | Y |
| P19 | M | 10.7 | inguinal region | c.170_172dup | N | 1, NTD | p.Leu57dup | U | Y |
| P20 | F | 1.3 | inguinal region | c.2740C > T | N | 8, LBD | p.Pro914Ser | 0.996 | Y |
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