Molecular Analysis of a Recurrent Sarcoma Identifies a Mutation in FAF1

Figure 2

FAF1 structure. (a) A schematic of functional domains in FAF1 with annotations (adapted from [6–8]). There are two ubiquitin-like domains flanking the S181 site. The PDB structure 2DZM identifies the N-terminal one, while the C-terminal prediction is by sequence similarity. Whereas the mutation S181G is not expected to disrupt the protein structure per se, this amino acid has a high score as a possible phosphorylation site for a number of kinases involved in DNA damage repair. (b) Secondary structure prediction of FAF1. The residues around S181 appear unstructured.

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