Supplementary Figure 1: Missense mutation clustering in PTPN11.
From: Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
a) Linear representation of the protein (NP_002825.3) with known functional domains annotated. The top two lines show mutations in controls from the 1000 Genomes Project (1KG)79 and the Exome Aggregation Consortium (ExAC)18. The third line shows de novo missense mutations in cases in denovo-db64 v.1.2. The case mutations fall in three small clusters. b) 3D representation of the PTPN11 protein shows that the three clusters of mutations that are far apart in the linear plot are in close proximity to each other and the ligand binding site after folding34.
