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. 2021 Aug 27;12(9):1328. doi: 10.3390/genes12091328

Figure 2.

Figure 2

NGS data analyzed with IGV software and Sanger sequencing data analyzed with Chromas. (a) Photographs of IGV analysis reporting the c.887G > A, p.(R296Q) variant. Green line represents the variable base in IGV visualization (b) Sanger sequencing results of MED12 gene variant c.887G > A, p.(R296Q) in two affected individuals III-1, III-3 (hemizygous) and the unaffected mother II-3, II-4 (heterozygous). The site of the pathogenic variant is marked by a red line. (c) Alignment analysis of the amino acid sequences of MED12 from different species, showing complete conservation of the identified mutated residue (arrow).