Table 2.
Mutations of TEX11 reported for azoospermia patients in published literature and our data.
| Position | Nucleotide change | Protein/RNA change | Testicular sperm | Patients (n) | Reference |
|---|---|---|---|---|---|
| Exon 6 | 405C>T | Silent mutation, A135spl db | Few sperm | 1 | (4) |
| Exon 7 | 466A>G | Missense mutation, M156V | No sperm | 1 | (4) |
| Exon 9-11 | 607del237bp | 203del79aa | Few sperm | 2 | (4) |
| Intron 10 | 748+1G>Ac | L249spl db | No sperm | 1 | (4) |
| Intron 21 | 1793+1G>Cc | R597spl db | No sperm | 1 | (4) |
| Exon 24 | 2047G>A | Missense mutation, A683T | Few sperm | 1 | (4) |
| Exon 6 | 349T>A | Missense mutation, W117R | No sperm | 1 | (3) |
| Exon 6 | 405C>T | Silent mutation | No sperm | 1 | (3) |
| Exon 7 | 424G>A | Missense mutation, V142I | No sperm | 1 | (3) |
| Exon 7 | 515A>G | Missense mutation, Q172R | No sperm | 1 | (3) |
| Exon 10 | 731C>T | Missense mutation, T244I | No sperm | 1 | (3) |
| Exon 16 | 1258Ins (TT) | Frameshift mutation, 1258GATG→TTGGTA |
No sperm | 1 | (3) |
| Exon 26 | 2243T>C | Missense mutation, V748A | No sperm | 1 | (3) |
| Exon 27 | 2319T>C | Silent mutation | No sperm | 1 | (3) |
| Intron 3 | -17T>Cc | Intronic alteration | No sperm | 1 | (3) |
| Intron 5 | -48G>Ac | Intronic alteration | No sperm | 1 | (3) |
| Intron 10 | +42C>Ac | Intronic alteration | No sperm | 1 | (3) |
| Intron 12 | -28T>Cc | Intronic alteration | No sperm | 1 | (3) |
| Intron 15 | -64G>Ac | Intronic alteration | No sperm | 1 | (3) |
| Intron 21 | -1G>Ac | Intronic alteration | No sperm | 1 | (3) |
| Intron 22 | -37A>Gc | Intronic alteration | No sperm | 1 | (3) |
| Intron 24 | +119G>Ac | Intronic alteration | No sperm | 1 | (3) |
| Intron 27 | -55A>Cc | Intronic alteration | No sperm | 1 | (3) |
| Intron 28 | -44A>Gc | Intronic alteration | No sperm | 1 | (3) |
| Exon 29 | 2568G>T | Missense mutation, W856C | No sperm | 2 | (25) |
| Exon 3 | 151_154del | D51 frame-shift mutation | No sperm | 1 | (26) |
| Intron 21 | 1796 + 2T > G | Splicing mutation, 599K spl d | No sperm | 2 | (15) |
| Intron 16 | 1426-1C > T | Splicing mutation, 476A spl d | No sperm | 6 | (15) |
| Exon 30 | 2613G > T | Missense mutation, W871C | No sperm | 2 | (15) |
| Exon 12 | 1051G > T | Nonsense mutation, E351* | No sperm | 1 | (15) |
| Exon 16 | 1254dupA | Frameshift mutation, N418K fs*10 |
No sperm | 1 | (15) |
| Exon 5 | 298delG | Frameshift mutation, V85L fs*5 | No sperm | 1 | (15) |
| Exon 12 | 857delA | Frameshift mutation K286R fs*5 |
No sperm | 1 | (15) |
| Exon 26 | 2240C>A | Missense mutation p.S747X |
No sperm | 1 | (27) |
| Exon 16 | 1337G>T | Missense mutation p.R446M |
No sperm | 1 | (27) |
| Exon 16 | 1246C>T | Missense mutation p.Q416X |
No sperm | 1 | (27) |
| Exon 5 | 313C>T | Nonsense mutation, R105* p.R105* |
No sperm | 1 | This study |
| Exon 7 | 427A>C | Missense mutation, K143Q K143Q |
No sperm | 1 | This study |
| Exon 29 | 2575G>A | Missense mutation, G859R G859R |
No sperm | 2 | This study |
aTEX11 mutations were mapped to isoform 2 (GenBank accession number, NM_031276); bThe term spl d represents the splicing donor sit; c+1 refers to the first base of a given intron, and -1 denotes the last base. TEX11: testis expressed 11; del: deletion; bp: base pair; Ins: insertion.