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Figure 5: Electropherogram showing the mutated sequence profile detected in the patient. The red letters display respective nucleotide bases being incorporated to create the frame shift mutation starting at cDNA position 257 and resulting in a duplication of respective amino acids c.257_268dup, p.Val86_Arg89dup. The green bar displays the reference sequence and corresponding coding amino acid triplets. The mutation resulted in replacement of amino acid glutamic acid (represented by the letter E in the reference sequence) [open arrow] by Valine (represented by letter V) [solid arrow]

Figure 5: Electropherogram showing the mutated sequence profile detected in the patient. The red letters display respective nucleotide bases being incorporated to create the frame shift mutation starting at cDNA position 257 and resulting in a duplication of respective amino acids c.257_268dup, p.Val86_Arg89dup. The green bar displays the reference sequence and corresponding coding amino acid triplets. The mutation resulted in replacement of amino acid glutamic acid (represented by the letter E in the reference sequence) [<i>open arrow</i>] by Valine (represented by letter V) [<i>solid arrow</i>]