Sox10^Dal

The mutaion is a T-to-G transversion at nucleotide position 676 of the gene (Genbank: XM_128139), in the second exon. It results in replacement of asparagine by lysine at amino acid position 131 (N131K), the terminal amino acid of the loop between the first and second alpha-helices (sometimes considered the first aa of helix II) in the DNA-binding HMG domain of the protein. (J:132358)