The mutation comprises an A to G transition at nucleotide 749 of the mRNA sequence, in the fourth of the gene's 10 exons (Genbank record NM_016850; 148451039 bp on Chr 7, NCBI m37 mouse assembly (Build 37.1)). It results in replacement of aspartic acid by glycine at amino acid 110 (D110G), in the DNA-binding domain of the protein.