Table 2 Mutations of TEX11 detected in patients with azoospermia*
Position | Nucleotide change | Protein/RNA change | Spermatogenic failure | No. of patients | Ref. |
|---|---|---|---|---|---|
Exon 6 | 405C→T | Silent mutation, A135spl d # | Few sperm | 1 | 21 |
Exon 7 | 466A→G | Missense mutation, M156V | No sperm | 1 | |
Exons 9–11 | 607del237bp | 203del79aa | Few sperm | 2 | |
Intron 10 | 748+1G→A † | L249spl d # | No sperm | 1 | |
Intron 21 | 1793+1G→C † | R597spl d # | No sperm | 1 | |
Exon 24 | 2047G→A | Missense mutation, A683T | Few sperm | 1 | |
Exon 6 | 349T→A | Missense mutation, W117R | No sperm | 1 | 5 |
Exon 6 | 405C→T | Silent mutation | No sperm | 1 | |
Exon 7 | 424G→A | Missense mutation, V142I | No sperm | 1 | |
Exon 7 | 515A→G | Missense mutation, Q172R | No sperm | 1 | |
Exon 10 | 731C→T | Missense mutation, T244I | No sperm | 1 | |
Exon 16 | 1258Ins (TT) | Frameshift mutation; 1258GATG→TTGGTA | No sperm | 1 | |
Exon 26 | 2243T→C | Missense mutation, V748A | No sperm | 1 | |
Exon 27 | 2319T→C | Silent mutation | No sperm | 1 | |
Intron 3 | −17T→C † | Intronic alteration | No sperm | 1 | |
Intron 5 | −48G→A † | Intronic alteration | No sperm | 1 | |
Intron 10 | +42C→A † | Intronic alteration | No sperm | 1 | |
Intron 12 | −28T→C † | Intronic alteration | No sperm | 1 | |
Intron 15 | −64G→A † | Intronic alteration | No sperm | 1 | |
Intron 21 | −1G→A † | Alteration of splicing acceptor site | No sperm | 1 | |
Intron 22 | −37A→G † | Intronic alteration | No sperm | 1 | |
Intron 24 | +119G→A † | Intronic alteration | No sperm | 1 | |
Intron 27 | −55A→C † | Intronic alteration | No sperm | 1 | |
Intron 28 | −44A→G † | Intronic alteration | No sperm | 1 | |
Exon 29 | 2568G→T | Missense mutation, W856C | No sperm | 2 | This study |