Overview about the mutations found in NOTCH1. The domain structure of NOTCH1, the functions of these domains, and the respective coding exons are schematically depicted (A). Analyzed exons and domains are highlighted. Mutations detected in this study are illustrated with respect to their position in the exons of the gene (B). Symbols below the exon line indicate homozygous mutation. Modified after Weng et al⁹ , Zuurbier et al¹⁴ , and Wagener and Müller.³⁵  EGF, epidermal growth factor; HD, heterodimerization domain; LNR, LIN12/NOTCH repeats; NLS, nuclear localization sequence; TAD, transactivation domain. TM, transmembrane domain.