Supplementary Figure 3: The ETV6 p.Arg369Gln mutation disrupts internal hydrogen bonding.
From: Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
(a) Hydrogen bonding (dotted lines) between the guanidinium nitrogen of Arg369 (orange) in β sheet 2 with the backbone carbonyl oxygen of Arg414 (magenta) in the wing of the ETS domain. Protein structure of the murine Etv6 ETS domain (PDB ID: 4MHG) is shown. The ETS domains of mouse and human ETV6 have 100% amino acid sequence identity. (b) Molecular modeling of the Arg369Gln (orange) variant using SWISS-MODEL predicts loss of this hydrogen bonding interaction.
