Table 1 Genetic information of DNAH9 mutations of the two individuals
From: Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia
| Individual | F1 II-1 | F2 II-1 | ||
|---|---|---|---|---|
| cDNA mutation | c.302dupT | c.6956A > G | c.6294 T > A | c.10571 T > A |
| Mutation type | frameshift | nonsynonymous | nonsynonymous | nonsynonymous |
| Protein alteration | p.Leu101fs*47 | p.Asp2319Gly | p.Phe2098Leu | p.Leu3524Gln |
| Allele frequency in human population | ||||
| 1KGP | 0 | 0 | 0 | 0 |
| ExAc_all | 0.0008 | 0.00002 | 0 | 0 |
| gnomAD | 0.0003 | 0.00002 | 0 | 0 |
| Functional prediction | ||||
| SIFT | N/A | D | D | D |
| PolyPhen-2 | N/A | D | D | D |
| MutationTaster | N/A | D | D | D |