Table 1.
Variants of IZUMO1R found in women with fertilization failure, polyspermy, and controls
| Phenotype | DNA sequence variation | Amino acid substitution | dbSNP ID | Location | Genotype, n (%) | Allele (%) | Probable interpretation | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Case | Control | Case | Control | ||||||||
| Fertilization failure | c.510T>G | p.His170Gln | rs76779571 | Exon 4 | TT | 213 (99.0) | 300 (100.0) | T | 99.3 | 100 | Deleterious |
| TG | 1 (0.5) | 0 | G | 0.7 | 0 | ||||||
| GG | 1 (0.5) | 0 | |||||||||
| Polyspermy | c.9C>G | p.Cys3Trp | rs61742524 | Exon 1 | CC | 329 (99.7) | 300 (100.0) | C | 99.8 | 100 | Not deleterious |
| GC | 1 (0.3) | 0 | G | 0.2 | 0 | ||||||
| GG | 0 | 0 | |||||||||
| c.-18G>T | Synonymous | rs76781645 | Exon 1 | GG | 329 (99.7) | 300 (100.0) | C | 99.8 | 100 | Not deleterious | |
| GT | 1 (0.3) | 0 | G | 0.2 | 0 | ||||||
| TT | 0 | 0 | |||||||||
| c.329+8G>T | Synonymous | rs377369966 | Intron 2 | GG | 329 (99.7) | 300 (100.0) | G | 99.8 | 100 | Not deleterious | |
| GT | 1 (0.3) | 0 | T | 0.2 | 0 | ||||||
| TT | 0 | 0 | |||||||||