Fig. 4: Schematic diagram of VEGFR2 with all variants identified in tetralogy of Fallot (TOF) patients.
From: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
Location of rare KDR variants identified in patients with TOF (index family and 1,653 TOF probands). Variants are split into missense variants (black) and protein-truncating variants (PTVs) (red). Highlighted are the two variants identified in the index family, KDR-p.(Gly345Trp) and KDR-p.(Gly537Arg), and KDR-p.(Val219Ala) and KDR-p.(Thr442Met), that were functionally tested. Domains marked as I–VII represent the Ig-like domains 1 to 7. The transmembrane domain (gray box) separates the extracellular domain (left) of the intracellular domain (right). VEGFR2 subdomains are based on Roskoski20.
