Fig. 2

The homozygous missense variant in SSFA2 identified in the patient. A Pedigree of the globozoospermia patient from a consanguineous family, with the arrow pointing to the proband. B Sanger sequencing verification of the patient carrying the homozygous c.3671G > A variant in SSFA2. The homozygotes are indicated by red arrows, and the heterozygotes are indicated by black arrows. C The affected amino acid residue is quite conserved across species and located in an unknown domain. Red arrows indicate the position of the missense variant. Domains of SSFA2. One KRAP_IP3R_bind domain (residues H148-T298), one SSFA2_C domain (residues T864-L1047) and one unknown domain (residues E1209-S1247) were identified