Figure 2.

Identification of bi-allelic DNAH12 variants in three Chinese men with male infertility

(A) Pedigree analysis of three families affected by bi-allelic DNAH12 variants identified by WES. Black-filled squares indicate infertile men in these families. Sanger sequencing results are shownunder the pedigrees. The mutated positions are indicated by red arrows.

(B) Schematic representation of the domains of DNAH12 protein. Dotted lines with different colors indicate the positions of different DNAH12 variants identified in the present study. Sequence alignment shows the conservation of mutated residues among different species. M, mutation type; WT, wild type.