Figure 3.

Example of data analysis with VariO annotations. Wiskott-Aldric syndrome protein (WASP) variations are involved in four conditions including Wiskott-Aldrich syndrome (WAS; red), the most severe disease; X-linked thrombocytopenia (XLT; green), a somewhat milder disorder; intermittent XLT (IXLT; black); and congenital neutropenia (XLN; blue). Annotations are shown only for relevant features of variation type, protein abundance, protein stability, and protein activity. The cases are grouped based on variation types to indicate genotype–phenotype correlations. The less severe disorders typically have less drastic changes—mainly amino acid substitutions—while the more severe diseases such as XLT and especially WAS contain protein truncations and splice-site-affecting alterations. The protein abundance follows this trend, being unaffected in XLN and IXLT, while in XLT it is mainly decreased and in WAS mainly missing.

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