Table 1

Homozygous stop-gain variants of SPEF2 identified in the men with MMAF

SubjectcDNA mutationProtein alterationAllele frequency in populations
1KGPExACgnomAD
A028-II-1c.910C>Tp.Arg304*08.2×10−6 8.0×10−6
A042-II-1c.3400delAp.Ile1134Serfs*1308.3×10−6 4.0×10−6
F003-II-2c.3240delTp.Phe1080Leufs*2000
  • 1KGP, 1000 Genomes Project; ExAC, Exome Aggregation Consortium; gnomAD, Genome Aggregation Database;MMAF, multiple morphological abnormalities of the sperm flagella; SPEF2, sperm flagellar 2.