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. 2021 Jun 10;23(10):1952–1960. doi: 10.1038/s41436-021-01212-y

Fig. 4. Schematic diagram of VEGFR2 with all variants identified in tetralogy of Fallot (TOF) patients.

Fig. 4

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.