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. 2018 Apr 16;10(5):e8515. doi: 10.15252/emmm.201708515

Figure 1. Identification of a truncating mutation in PATL2 .

Figure 1

  1. Location of the PATL2 mutation in the intron–exon structure and in a representation of the corresponding amino acid sequence. The variant identified, homozygous in the six patients, is located in exon 6 and creates a STOP codon, ending translation and producing a truncated 158‐amino acid (aa) protein instead of the full‐length 543 aa, and lacking the essential PAT1 (topoisomerase II‐associated protein PAT1) domain.
  2. Electropherograms of Sanger sequencing for patients harbouring PATL2 mutations compared to reference sequence.