case_images: PMC10965284_01
case_images: Viewing variants on the IGV (Integrative Genomics Viewer) tool.
case_images: CRIE2024-6621510.001.jpg
case_images: PMC10965284_01_CRIE2024-6621510.001.jpg
case_images: fig1
case_images: The Integrative Genomics Viewer (IGV) tool displayed that the variants were on the same allele (Figure 1), and actually, they resulted in an in-frame delins, namely, c.1799_1812delinsAT, p.V600_W604delinsD.
case_images: Electropherogram obtained by Sanger sequencing of BRAF exon 15 showing a region between codons 599 and 605 (amino acid symbol in round brackets) according to the reference sequence (NM_004333.6; transcript: ENST00000646891.2). Red codons and red-squared nucleotides are deleted and the green ones are inserted.
case_images: CRIE2024-6621510.002.jpg
case_images: PMC10965284_01_CRIE2024-6621510.002.jpg
case_images: fig2
case_images: The presence of the p.V600_W604delinsD mutation was confirmed on electropherogram inspection (Figure 2).
case_images: Three-dimensional protein structure of the wild-type (a) and mutant (b) BRAF protein.
case_images: CRIE2024-6621510.003.jpg
case_images: PMC10965284_01_CRIE2024-6621510.003.jpg
case_images: fig3
case_images: Moreover, the Swiss model and PyMOL software were utilized to build the three-dimensional protein structure of wild-type (Figure 3(a)) and mutant BRAF protein (Figure 3(b)). In addition, the modeling showed that the p.V600_W604delinsD dramatically altered the structure of the protein (Figure 3(b)).