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. 2020 Sep 15;11:957. doi: 10.3389/fgene.2020.00957

FIGURE 3.

FIGURE 3

Schematic representation of NOTCH1 domains and rare variants identified in individuals with tetralogy of Fallot. Findings from the current study involving 8 of 175 probands with TOF are indicated in red font; 24 ultra-rare missense variants from the Page et al. study (Page et al., 2019) are indicated in blue font. The seven ultra-rare missense NOTCH1 variants deemed to be either likely deleterious (n = 6) or potentially deleterious (p.Asn623Lys) are indicated in bold red font (details in Supplementary Table S13). Underline indicates those variants that alter evolutionarily conserved cysteine residues; eight located within the EGF-like repeats domain and two in the LNR (Lin12-Notch) domain. Abbreviations: aa, amino acid; ANK, ankyrin; EGF, epidermal growth factor; HD, heterodimerization domain; LNR, Lin/NOTCH repeats; PEST, sequence rich in proline, glutamic acid, serine, and threonine; RAM, RBP-JK–associated molecule region; TAD, transactivation domain; TM, transmembrane domain (aa1736–1756). The protein domains were derived from UniProt (https://www.uniprot.org/uniprot/P46531).