Figure 4 of Hogewind, Mol Vis 2010; 16:26-35.


Figure 4. The p.Lys836Asn mutation in the WFS1 gene. The figure shows results of the DNA sequence analysis of part of exon 8 of the WFS1 gene. The upper chromatogram exhibits the wildtype sequence whereas the lower chromatogram shows the sequence of an affected family member. The arrowhead marks the nucleotide at position 2508. The results show that the patient heterozygous for a guanine (G; yellow peak) to cytosine (C; blue peak) exchange at this position, which translates into a lysine to asparagine amino acid substitution at position 836 of the corresponding protein.