Table S1: Common sequence variants in human TEX11 gene
YANG, Fang, et al. TEX11 is mutated in infertile men with azoospermia and regulates genome‐wide recombination rates in mouse. EMBO molecular medicine, 2015, 7. Jg., Nr. 9, S. 1198-1210.
Publication: https://doi.org/10.15252/emmm.201404967
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The publication TEX11 is mutated in infertile men with azoospermia and regulates genome‐wide recombination rates in mouse by Fang Yang, Sherman Silber, N Adrian Leu, Robert D Oates, Janet D Marszalek, Helen Skaletsky, Laura G Brown, Steve Rozen, David C Page, P Jeremy Wang is published under an open access license: https://creativecommons.org/licenses/by/4.0/. Granted rights: share — copy and redistribute the material in any medium or format and adapt — remix, transform, and build upon the material.
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Table
| Position | NucleotideChange | Resultantchange | InfertileMales_azoospermic | NormalMales_fertile | NormalMales_nihDiversity |
|---|---|---|---|---|---|
| Exon 6 | 344A->G | Missense mutation_K225R_SNP:rs6525433 | 14 | 5 | 20 |
| Exon 16 | 1306G->A | Missense mutation_E436K_SNP:rs4844247 | 11 | 4 | 10 |
| Exon 26 | 2274A-> | Silent mutation | 1 | 1 | |
| Exon 28 | 2496T->G | Missense mutation_D832E | 2 | ||
| Exon 28 | 2496T->C | Silent mutation_SNP:rs16991177 | 13 | 4 | 9 |
| Exon 30 | 123T->C 3UTR | Alteration in the first AATAAA signal | 2 | 1 | 0 |
| Intron 4 | +35G->A | Intronic alteration_SNP:rs5937008 | 118 | 34 | 29 |
| Intron 4 | -22T->C | Intronic alteration | 7 | 1 | 9 |
| Intron 4 | -24C->T | Intronic alteration | 1 | 1 | 3 |
| Intron 7 | -26T->C | Intronic alteration_SNP:rs17301944 | 25 | 9 | 2 |
| Intron 8 | +11T->A | Intronic alteration | 1 | 1 | 1 |
| Intron 11 | -27T->C | Intronic SNP:rs6653304 | 12 | 5 | 2 |
| Intron 16 | +48A->T | Intronic SNP:rs5980996 | 38 | 23 | 13 |
| Intron 18 | -25A->G | Intronic SNP:rs1325094 | 40 | 24 | 14 |
| Intron 18 | -23T->C | Intronic SNP:rs1325094 | 88 | 39 | 21 |
| Intron 21 | -10T->A* | Intronic alteration | 2 | ||
| Intron 24 | +89T->C | Intronic alteration | 2 | ||
| Intron 28 | +58T->C | Intronic SNP | 8 | 3 | 12 |
| Intron 28 | -3_minus4TC->AT | Intronic SNP:rs1536250-rs1536251 | 15 | 4 | 2 |