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. 2019 May 22;58(16):2383–2386. doi: 10.2169/internalmedicine.1961-18

Figure 4.

Figure 4.

The results of Sanger sequencing in this case. Compound heterozygous mutations in the DNAH5 gene are shown. Regarding the mutations of this case, c.5563_5564insA is a frame-shift mutation caused by the insertion of A between nucleotide positions 5563 and 5564, which leads to the frame-shift of an isoleucine codon at position 1855 and a stop codon at position 6. c.9365delT is a nonsense mutation caused by a defect in T at nucleotide position 9365 of the coding sequence of the gene, resulting in the leucine codon at position 3122 being changed to a stop codon. Green: Adenine (A). Black: Guanine (G). Red: Thymine (T). Blue: Cytosine (C)