Fig. 2

Sequencing results and analysis. a The variation of c.1343C > T, p.Ala448Val is a missense variant identified in the proband and her mother. Her father did not carry the variant. Red arrows indicate the variant. b Orthologous protein sequence alignment of CLCN4 from different species. The mutated residue demonstrating conservation of alanine (Ala) at codon 448 is indicated by the arrow