Fig. 2.

Patient genotypic features. A Pedigree analysis of two cases of recurrent preimplantation embryonic arrest. Black squares with arrows indicate affected individuals. The black arrows in the chromatograms show the locations of the PADI6 mutations. B Localization of variants in the genomic and protein structure. Red arrows represent 3 new mutations in our study, and black arrows represent 11 mutations reported in previous studies. C Conservation of mutated amino acids in 7 different species. The residues S508 and R570 and nearby residues T366, G397, I566, and K574 are highly conserved across species; however, others are conserved in primates. D Protein conformation predictions of mutations in PADI6. The magnified views show the comparison of missense mutant residues P373 and C570 with views of wild-type residues T373 and R570. Red-dashed lines represent hydrogen bonds. The number of hydrogen bonds is decreased for both mutant residues