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. 2020 Sep 23;11:570355. doi: 10.3389/fgene.2020.570355

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Copyright © 2020 Oommen, Kizhakkedath, Jawabri, Varghese and Ali.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Schematic representation of the LDLR gene and protein structure. (A) The 18 exons of LDLR are numbered and exons coding for different domains of the LDLR protein are represented by different colors. (B) The LDLR protein has an extracellular domain (ECD), a membrane-spanning domain (TMD) and a cytoplasmic C-terminal domain. The ECD consists of a ligand-binding domain (LBD), an epidermal growth factor (EGF) homology domain and an O-linked sugar region. The EGF homology domain is composed of three EGF-like repeats 1–3 and a β-propeller domain of six YWTD motifs occurs between repeats 2 and 3. (C) Schematic diagram showing the amino acid positions of well known class II mutations (Table 2) and the substitutions are marked in boxes. OSD, O-linked sugar domain.