Homozygous stop-gain variants of SPEF2 identified in the men with MMAF
| Subject | cDNA mutation | Protein alteration | Allele frequency in populations | ||
| 1KGP | ExAC | gnomAD | |||
| A028-II-1 | c.910C>T | p.Arg304* | 0 | 8.2×10−6 | 8.0×10−6 |
| A042-II-1 | c.3400delA | p.Ile1134Serfs*13 | 0 | 8.3×10−6 | 4.0×10−6 |
| F003-II-2 | c.3240delT | p.Phe1080Leufs*2 | 0 | 0 | 0 |
1KGP, 1000 Genomes Project; ExAC, Exome Aggregation Consortium; gnomAD, Genome Aggregation Database;MMAF, multiple morphological abnormalities of the sperm flagella; SPEF2, sperm flagellar 2.