Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency

Figure 2

SMARCB1 protein and reported mutations. Schematic view of SMARCB1 and the distribution of reported mutations along the protein. The germline mutation detected (red line) is located in the SNF5 domain. This alteration is the second most common mutated variation reported in Cosmic database as illustrated in the plot ( denotes the position for the detected mutation). Depicted are all reported substitutions and insertions/deletions mutations with a maximum size of 3 nucleotides. The majority of cases are AT/RTs. The different colors in the plot indicate the different frequencies of reported mutations.