Figure 1.

Schematic illustration of the Notch3 receptor. Each epidermal growth factor (EGF)–like repeat (EGFR) is color coded on the basis of pooled prevalence estimates of cysteine-altering NOTCH3 mutations affecting this EGFR derived from recently published studies (Rutten et al,¹⁰; Rutten et al,¹¹; and Hack et al,¹²) examining three large exome databases (UK Biobank, Exome Aggregation Consortium; ExAC, and Geisinger DiscovEHR). ANK, ankyrin repeats; HD, heterodimerization domain; LNR, Lin-12/Notch Repeat; PEST, proline (P), glutamine (E), serine (S), and threonine (T) rich region; RAM, recombination signal binding protein for immunoglobulin Kappa J region (RBPJ) association molecule; TMD, transmembrane domain.