Fig. 7

Schematic picture of the SORL1 protein adapted from Verheijen et al., presenting the location of SORL1 variants that are “likely pathogenic” (in bold) and variants of “uncertain significance”, also see Table 2. Functional domains are based on Uniprot information (Q92673), and numbering of variations are based on NM_003105.5 (cDNA) and NP_003096 (protein). Below are lines corresponding to the epitopes used to generate the respective antibodies (MAB5699, AF5699, 612633 and ab190684) applied in the study. Vps10p: vacuolar protein sorting 10 domain; LDLR class B: low-density lipoprotein-receptor class B repeats; EGF: epidermal growth factor-like domain; LDLR class A: low-density lipoprotein-receptor class A domain; Fibronectin III: Fibronectin type-III domain; TM: transmembrane domain