Fig. 2

Analysis of the EIF4ENIF1 variant. a Sanger sequencing validation of the heterozygous c.2525A > C mutation in the EIF4ENIF1 gene. The red arrow indicates the mutation site. b Amino acid sequence alignment of EIF4ENIF1 from different species. The red arrow indicates the mutated amino acid. Glutamine at position 842 is 100% conserved in all species