Figure 1

Genetic profiling of NOTCH1 genes. Fifty-seven genetic mutations were detected in NOTCH1 and 70.31% of patients carried NOTCH1 mutations. EGF_CA calcium-binding EGF-like domain; Other: Ca2+ binding site; EGF EGF-like domain, NL domain found in Notch and Lin-12. Notch LNR domain. NOD and NODP NOTCH protein, Ank_2 ankyrin repeats, ANK repeat ANK repeat, ANK ankyrin repeats, Med25_SD1 mediator complex subunit 25 synapsin 1, DUF3454 domain of unknown function (DUF3454).