Fig. 2

Validation and analysis of POLR3B variants. A Sanger sequencing confirmed the compound heterozygous POLR3B variants in the proband and abortus. The father and mother of the porband each carried a heterozygous allele. The red arrows indicate the variant sites. B Domains and variant sites in POLR3B. The full-length protein comprises 1133 amino acids. RNA_pol_Rpb2_1 domain (light blue box); RNA_pol_Rpb2_3 domain (purple box); RNA_pol_Rpb2_4 domain (red box); RNA_pol_Rpb2_5 domain (yellow box); RNA_pol_Rpb2_6 domain (dark blue box); RNA_pol_Rpb2_7 domain (green box). C Sequence alignment of POLR3B in different species. The red arrows indicate the variant sites