Figure 4 | Scientific Reports

Figure 4

From: Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR

Figure 4

LDLR activity of wt and p.(Ser326Cys), p.(Cys338Phe), p.(Cys368Tyr), p.(Ser584Pro), p.(Asp622Gly), p.(Cys698Tyr) and p.(Asp707Tyr) LDLR variants. (A,C) LDL- LDLR binding and (B,D) FITC-LDL uptake activity. Assays were performed as described in Materials and Methods. Data show the mean of three independent experiments; error bars represent ± SD. *P < 0.001 compared to wt using a Student’s t-test.

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