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Fig. 3 | Lipids in Health and Disease

Fig. 3

From: Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia

Fig. 3

Bioinformatics prediction and in vitro validation of the mutated sequence of LDLR. (A) The gel electrophoresis image showed the full-length CDS region (558 bp) of the mutation fragment and the CDS region of the normal LDLR (exon 1–4). (B) SignalP was used to predict the presence of a complete signal peptide in the mutated LDLR. (C) TMHMM confirmed that the mutant sequence does not contain any transmembrane domains. (D) Western blotting was used to detect the mutant LDLR protein, which had a size of 22 kDa. However, it did not bind to the anti-LDLR antibody. (E) SWISS-MODEL was used to generate spatial structures of both the normal LDLR and the mutated LDLR protein

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Lipids in Health and Disease

ISSN: 1476-511X