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Database: UniProt
Entry: P01130
LinkDB: P01130
Original site: P01130 
ID   LDLR_HUMAN              Reviewed;         860 AA.
AC   P01130; B4DII3; B4DJZ8; B4DR00; B4DTQ3; C0JYY8; H0YLU8; H0YNT7;
AC   Q53ZD9; Q59FQ1; Q9UDH7;
DT   21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
DT   21-JUL-1986, sequence version 1.
DT   10-APR-2019, entry version 237.
DE   RecName: Full=Low-density lipoprotein receptor;
DE            Short=LDL receptor;
DE   Flags: Precursor;
GN   Name=LDLR;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, AND
RP   FUNCTION.
RX   PubMed=6091915; DOI=10.1016/0092-8674(84)90188-0;
RA   Yamamoto T., Davis C.G., Brown M.S., Schneider W.J., Casey M.L.,
RA   Goldstein J.L., Russell D.W.;
RT   "The human LDL receptor: a cysteine-rich protein with multiple Alu
RT   sequences in its mRNA.";
RL   Cell 39:27-38(1984).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX   PubMed=2988123; DOI=10.1126/science.2988123;
RA   Suedhof T.C., Goldstein J.L., Brown M.S., Russell D.W.;
RT   "The LDL receptor gene: a mosaic of exons shared with different
RT   proteins.";
RL   Science 228:815-822(1985).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC   TISSUE=Liver;
RA   Jia S., Lv L., Sun H., Wang Q., Wang H., Zhan L., Yang Z.;
RL   Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 4 AND 6).
RC   TISSUE=Hippocampus, Placenta, and Thalamus;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA   Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA   Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA   Phelan M., Farmer A.;
RT   "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT   vector.";
RL   Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA   Rieder M.J., da Ponte S.H., Kuldanek S.A., Rajkumar N., Smith J.D.,
RA   Toth E.J., Krauss R.M., Nickerson D.A.;
RL   Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
RN   [7]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
RC   TISSUE=Brain;
RA   Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
RA   Ohara O., Nagase T., Kikuno R.F.;
RT   "Homo sapiens protein coding cDNA.";
RL   Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN   [8]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RG   NHLBI resequencing and genotyping service (RS&G);
RL   Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases.
RN   [9]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15057824; DOI=10.1038/nature02399;
RA   Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
RA   Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA   Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA   Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA   Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA   Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA   Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA   Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA   Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA   Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA   Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA   Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA   Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA   Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA   Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA   Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA   Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA   Rubin E.M., Lucas S.M.;
RT   "The DNA sequence and biology of human chromosome 19.";
RL   Nature 428:529-535(2004).
RN   [10]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [11]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Lymph;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [12]
RP   PROTEIN SEQUENCE OF 186-210; 394-405; 441-449; 472-495; 521-541 AND
RP   605-617.
RC   TISSUE=Cervix carcinoma;
RX   PubMed=8127891; DOI=10.1073/pnas.91.5.1839;
RA   Hofer F., Gruenberger M., Kowalski H., Machat H., Huettinger M.,
RA   Kuechler E., Blaas D.;
RT   "Members of the low density lipoprotein receptor family mediate cell
RT   entry of a minor-group common cold virus.";
RL   Proc. Natl. Acad. Sci. U.S.A. 91:1839-1842(1994).
RN   [13]
RP   FUNCTION, AND GLYCOSYLATION.
RX   PubMed=3005267;
RA   Davis C.G., Elhammer A., Russell D.W., Schneider W.J., Kornfeld S.,
RA   Brown M.S., Goldstein J.L.;
RT   "Deletion of clustered O-linked carbohydrates does not impair function
RT   of low density lipoprotein receptor in transfected fibroblasts.";
RL   J. Biol. Chem. 261:2828-2838(1986).
RN   [14]
RP   MUTAGENESIS OF CYTOPLASMIC DOMAIN, AND SUBCELLULAR LOCATION.
RX   PubMed=3104336;
RA   Davis C.G., van Driel I.R., Russell D.W., Brown M.S., Goldstein J.L.;
RT   "The low density lipoprotein receptor. Identification of amino acids
RT   in cytoplasmic domain required for rapid endocytosis.";
RL   J. Biol. Chem. 262:4075-4082(1987).
RN   [15]
RP   FUNCTION (MICROBIAL INFECTION) AS RECEPTOR OF HEPATITIS C VIRUS.
RX   PubMed=10535997; DOI=10.1073/pnas.96.22.12766;
RA   Agnello V., Abel G., Elfahal M., Knight G.B., Zhang Q.X.;
RT   "Hepatitis C virus and other flaviviridae viruses enter cells via low
RT   density lipoprotein receptor.";
RL   Proc. Natl. Acad. Sci. U.S.A. 96:12766-12771(1999).
RN   [16]
RP   FUNCTION (MICROBIAL INFECTION), AND INTERACTION WITH HIV-1 TAT.
RX   PubMed=11100124; DOI=10.1038/82199;
RA   Liu Y., Jones M., Hingtgen C.M., Bu G., Laribee N., Tanzi R.E.,
RA   Moir R.D., Nath A., He J.J.;
RT   "Uptake of HIV-1 tat protein mediated by low-density lipoprotein
RT   receptor-related protein disrupts the neuronal metabolic balance of
RT   the receptor ligands.";
RL   Nat. Med. 6:1380-1387(2000).
RN   [17]
RP   INTERACTION WITH LDLRAP1.
RX   PubMed=12221107; DOI=10.1074/jbc.M208539200;
RA   He G., Gupta S., Yi M., Michaely P., Hobbs H.H., Cohen J.C.;
RT   "ARH is a modular adaptor protein that interacts with the LDL
RT   receptor, clathrin, and AP-2.";
RL   J. Biol. Chem. 277:44044-44049(2002).
RN   [18]
RP   INTERACTION WITH ARRB1, AND MUTAGENESIS OF TYR-828 AND SER-854.
RX   PubMed=12944399; DOI=10.1074/jbc.M309450200;
RA   Wu J.-H., Peppel K., Nelson C.D., Lin F.-T., Kohout T.A., Miller W.E.,
RA   Exum S.T., Freedman N.J.;
RT   "The adaptor protein beta-arrestin2 enhances endocytosis of the low
RT   density lipoprotein receptor.";
RL   J. Biol. Chem. 278:44238-44245(2003).
RN   [19]
RP   GLYCOSYLATION AT ASN-657.
RX   PubMed=12754519; DOI=10.1038/nbt827;
RA   Zhang H., Li X.-J., Martin D.B., Aebersold R.;
RT   "Identification and quantification of N-linked glycoproteins using
RT   hydrazide chemistry, stable isotope labeling and mass spectrometry.";
RL   Nat. Biotechnol. 21:660-666(2003).
RN   [20]
RP   FUNCTION (MICROBIAL INFECTION) AS RECEPTOR OF HEPATITIS C VIRUS.
RX   PubMed=12615904; DOI=10.1084/jem.20021756;
RA   Bartosch B., Dubuisson J., Cosset F.-L.;
RT   "Infectious hepatitis C virus pseudo-particles containing functional
RT   E1-E2 envelope protein complexes.";
RL   J. Exp. Med. 197:633-642(2003).
RN   [21]
RP   INTERACTION WITH SNX17.
RX   PubMed=14739284; DOI=10.1074/jbc.M313689200;
RA   Burden J.J., Sun X.-M., Garcia Garcia A.B., Soutar A.K.;
RT   "Sorting motifs in the intracellular domain of the low density
RT   lipoprotein receptor interact with a novel domain of sorting nexin-
RT   17.";
RL   J. Biol. Chem. 279:16237-16245(2004).
RN   [22]
RP   GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-657.
RC   TISSUE=Plasma;
RX   PubMed=16335952; DOI=10.1021/pr0502065;
RA   Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E.,
RA   Moore R.J., Smith R.D.;
RT   "Human plasma N-glycoproteome analysis by immunoaffinity subtraction,
RT   hydrazide chemistry, and mass spectrometry.";
RL   J. Proteome Res. 4:2070-2080(2005).
RN   [23]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=15592455; DOI=10.1038/nbt1046;
RA   Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H.,
RA   Zha X.-M., Polakiewicz R.D., Comb M.J.;
RT   "Immunoaffinity profiling of tyrosine phosphorylation in cancer
RT   cells.";
RL   Nat. Biotechnol. 23:94-101(2005).
RN   [24]
RP   SUBCELLULAR LOCATION, AND INTERACTION WITH PCSK9.
RX   PubMed=17461796; DOI=10.1111/j.1600-0854.2007.00562.x;
RA   Nassoury N., Blasiole D.A., Tebon Oler A., Benjannet S., Hamelin J.,
RA   Poupon V., McPherson P.S., Attie A.D., Prat A., Seidah N.G.;
RT   "The cellular trafficking of the secretory proprotein convertase PCSK9
RT   and its dependence on the LDLR.";
RL   Traffic 8:718-732(2007).
RN   [25]
RP   GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-657.
RC   TISSUE=Liver;
RX   PubMed=19159218; DOI=10.1021/pr8008012;
RA   Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT   "Glycoproteomics analysis of human liver tissue by combination of
RT   multiple enzyme digestion and hydrazide chemistry.";
RL   J. Proteome Res. 8:651-661(2009).
RN   [26]
RP   SUBCELLULAR LOCATION, GLYCOSYLATION, CHARACTERIZATION OF VARIANT SAINT
RP   OMER ASP-546, MUTAGENESIS OF LYS-811; LYS-816; LYS-830 AND CYS-839,
RP   UBIQUITINATION, AND REGION.
RX   PubMed=19520913; DOI=10.1126/science.1168974;
RA   Zelcer N., Hong C., Boyadjian R., Tontonoz P.;
RT   "LXR regulates cholesterol uptake through Idol-dependent
RT   ubiquitination of the LDL receptor.";
RL   Science 325:100-104(2009).
RN   [27]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA   Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA   Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT   "Initial characterization of the human central proteome.";
RL   BMC Syst. Biol. 5:17-17(2011).
RN   [28]
RP   INTERACTION WITH PCSK9.
RX   PubMed=21149300; DOI=10.1074/jbc.M110.199042;
RA   Yamamoto T., Lu C., Ryan R.O.;
RT   "A two-step binding model of PCSK9 interaction with the low density
RT   lipoprotein receptor.";
RL   J. Biol. Chem. 286:5464-5470(2011).
RN   [29]
RP   FUNCTION (MICROBIAL INFECTION), AND INTERACTION WITH VESICULAR
RP   STOMATITIS VIRUS GLYCOPROTEIN.
RX   PubMed=23589850; DOI=10.1073/pnas.1214441110;
RA   Finkelshtein D., Werman A., Novick D., Barak S., Rubinstein M.;
RT   "LDL receptor and its family members serve as the cellular receptors
RT   for vesicular stomatitis virus.";
RL   Proc. Natl. Acad. Sci. U.S.A. 110:7306-7311(2013).
RN   [30]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Liver;
RX   PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA   Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
RA   Wang L., Ye M., Zou H.;
RT   "An enzyme assisted RP-RPLC approach for in-depth analysis of human
RT   liver phosphoproteome.";
RL   J. Proteomics 96:253-262(2014).
RN   [31]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=25944712; DOI=10.1002/pmic.201400617;
RA   Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M.,
RA   Ayoub D., Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT   "N-terminome analysis of the human mitochondrial proteome.";
RL   Proteomics 15:2519-2524(2015).
RN   [32]
RP   STRUCTURE BY NMR OF 20-67.
RX   PubMed=7603991; DOI=10.1073/pnas.92.14.6334;
RA   Daly N.L., Scanlon M.J., Djordjevic J.T., Kroon P.A., Smith R.;
RT   "Three-dimensional structure of a cysteine-rich repeat from the low-
RT   density lipoprotein receptor.";
RL   Proc. Natl. Acad. Sci. U.S.A. 92:6334-6338(1995).
RN   [33]
RP   STRUCTURE BY NMR OF 65-104.
RX   PubMed=7578052; DOI=10.1021/bi00044a025;
RA   Daly N.L., Djordjevic J.T., Kroon P.A., Smith R.;
RT   "Three-dimensional structure of the second cysteine-rich repeat from
RT   the human low-density lipoprotein receptor.";
RL   Biochemistry 34:14474-14481(1995).
RN   [34]
RP   X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 196-232.
RX   PubMed=9262405; DOI=10.1038/41798;
RA   Fass D., Blacklow S.C., Kim P.S., Berger J.M.;
RT   "Molecular basis of familial hypercholesterolaemia from structure of
RT   LDL receptor module.";
RL   Nature 388:691-693(1997).
RN   [35]
RP   STRUCTURE BY NMR OF 20-104, AND DISULFIDE BONDS.
RX   PubMed=10933493; DOI=10.1110/ps.9.7.1282;
RA   Kurniawan N.D., Atkins A.R., Bieri S., Brown C.J., Brereton I.M.,
RA   Kroon P.A., Smith R.;
RT   "NMR structure of a concatemer of the first and second ligand-binding
RT   modules of the human low-density lipoprotein receptor.";
RL   Protein Sci. 9:1282-1293(2000).
RN   [36]
RP   X-RAY CRYSTALLOGRAPHY (3.7 ANGSTROMS) OF 22-720, AND DISULFIDE BONDS.
RX   PubMed=12459547; DOI=10.1126/science.1078124;
RA   Rudenko G., Henry L., Henderson K., Ichtchenko K., Brown M.S.,
RA   Goldstein J.L., Deisenhofer J.;
RT   "Structure of the LDL receptor extracellular domain at endosomal pH.";
RL   Science 298:2353-2358(2002).
RN   [37]
RP   X-RAY CRYSTALLOGRAPHY (1.37 ANGSTROMS) OF 819-832 IN COMPLEX WITH
RP   LDLRAP1, INTERACTION WITH LDLRAP1, CHARACTERIZATION OF VARIANT FH
RP   CYS-828, MUTAGENESIS OF ILE-821 AND GLN-829, TOPOLOGY, AND MOTIF.
RX   PubMed=22509010; DOI=10.1073/pnas.1114128109;
RA   Dvir H., Shah M., Girardi E., Guo L., Farquhar M.G., Zajonc D.M.;
RT   "Atomic structure of the autosomal recessive hypercholesterolemia
RT   phosphotyrosine-binding domain in complex with the LDL-receptor
RT   tail.";
RL   Proc. Natl. Acad. Sci. U.S.A. 109:6916-6921(2012).
RN   [38]
RP   REVIEW ON FH VARIANTS.
RX   PubMed=1301956; DOI=10.1002/humu.1380010602;
RA   Hobbs H.H., Brown M.S., Goldstein J.L.;
RT   "Molecular genetics of the LDL receptor gene in familial
RT   hypercholesterolemia.";
RL   Hum. Mutat. 1:445-466(1992).
RN   [39]
RP   REVIEW ON FH VARIANTS.
RX   PubMed=9016531; DOI=10.1093/nar/25.1.172;
RA   Varret M., Rabes J.-P., Collod-Beroud G., Junien J., Boileau C.,
RA   Beroud C.;
RT   "Software and database for the analysis of mutations in the human LDL
RT   receptor gene.";
RL   Nucleic Acids Res. 25:172-180(1997).
RN   [40]
RP   VARIANT FH 47-ASP-GLY-48 DEL.
RX   PubMed=3263645; DOI=10.1073/pnas.85.21.7912;
RA   Leitersdorf E., Hobbs H.H., Fourie A.M., Jacobs M.,
RA   van der Westhuyzen D.R., Coetzee G.A.;
RT   "Deletion in the first cysteine-rich repeat of low density lipoprotein
RT   receptor impairs its transport but not lipoprotein binding in
RT   fibroblasts from a subject with familial hypercholesterolemia.";
RL   Proc. Natl. Acad. Sci. U.S.A. 85:7912-7916(1988).
RN   [41]
RP   VARIANTS FH ASN-175; GLU-227 AND MET-429.
RX   PubMed=2569482; DOI=10.1172/JCI114258;
RA   Leitersdorf E., van der Westhuyzen D.R., Coetzee G.A., Hobbs H.H.;
RT   "Two common low density lipoprotein receptor gene mutations cause
RT   familial hypercholesterolemia in Afrikaners.";
RL   J. Clin. Invest. 84:954-961(1989).
RN   [42]
RP   VARIANT FH CYS-828.
RX   PubMed=3955657; DOI=10.1016/0092-8674(86)90533-7;
RA   Davis C.G., Lehrman M.A., Russell D.W., Anderson R.G.W., Brown M.S.,
RA   Goldstein J.L.;
RT   "The J.D. mutation in familial hypercholesterolemia: amino acid
RT   substitution in cytoplasmic domain impedes internalization of LDL
RT   receptors.";
RL   Cell 45:15-24(1986).
RN   [43]
RP   VARIANTS FH TYR-90 AND LYS-140.
RX   PubMed=8347689; DOI=10.1016/0925-4439(93)90156-U;
RA   Rubinsztein D.C., Jialal I., Leitersdorf E., Coetzee G.A.,
RA   van der Westhuyzen D.R.;
RT   "Identification of two new LDL-receptor mutations causing homozygous
RT   familial hypercholesterolemia in a South African of Indian origin.";
RL   Biochim. Biophys. Acta 1182:75-82(1993).
RN   [44]
RP   VARIANTS FH GLY-87; LYS-228 AND TYR-667.
RX   PubMed=2318961; DOI=10.1172/JCI114531;
RA   Leitersdorf E., Tobin E.J., Davignon J., Hobbs H.H.;
RT   "Common low-density lipoprotein receptor mutations in the French
RT   Canadian population.";
RL   J. Clin. Invest. 85:1014-1023(1990).
RN   [45]
RP   VARIANT FH HIS-433.
RX   PubMed=1446662; DOI=10.1111/j.1432-1033.1992.tb17383.x;
RA   Miyake Y., Tajima S., Funahashi T., Yamamura T., Yamamoto A.;
RT   "A point mutation of low-density-lipoprotein receptor causing rapid
RT   degradation of the receptor.";
RL   Eur. J. Biochem. 210:1-7(1992).
RN   [46]
RP   VARIANT FH GLY-218 DEL.
RX   PubMed=1867200;
RA   Meiner V., Landsberger D., Berkman N., Reshef A., Segal P.,
RA   Seftel H.C., van der Westhuyzen D.R., Jeenah M.S., Coetzee G.A.,
RA   Leitersdorf E.;
RT   "A common Lithuanian mutation causing familial hypercholesterolemia in
RT   Ashkenazi Jews.";
RL   Am. J. Hum. Genet. 49:443-449(1991).
RN   [47]
RP   VARIANT FH HIS-168.
RX   PubMed=8462973; DOI=10.1007/BF00222714;
RA   Leitersdorf E., Reshef A., Meiner V., Dann E.J., Beigel Y.,
RA   van Roggen F.G., van der Westhuyzen D.R., Coetzee G.A.;
RT   "A missense mutation in the low density lipoprotein receptor gene
RT   causes familial hypercholesterolemia in Sephardic Jews.";
RL   Hum. Genet. 91:141-147(1993).
RN   [48]
RP   VARIANT FH PHE-318.
RX   PubMed=8168830; DOI=10.1007/BF00202819;
RA   Lelli N., Garuti R., Pedrazzi P., Ghisellini M., Simone M.L.,
RA   Tiozzo R., Cattin L., Valenti M., Rolleri M., Bertolini S.,
RA   Stefanutti C., Calandra S.;
RT   "A new missense mutation (Cys297-->Phe) of the low density lipoprotein
RT   receptor in Italian patients with familial hypercholesterolemia
RT   (FHTrieste).";
RL   Hum. Genet. 93:538-540(1994).
RN   [49]
RP   VARIANT FH LEU-685.
RX   PubMed=2726768; DOI=10.1073/pnas.86.11.4166;
RA   Soutar A.K., Knight B.L., Patel D.D.;
RT   "Identification of a point mutation in growth factor repeat C of the
RT   low density lipoprotein-receptor gene in a patient with homozygous
RT   familial hypercholesterolemia that affects ligand binding and
RT   intracellular movement of receptors.";
RL   Proc. Natl. Acad. Sci. U.S.A. 86:4166-4170(1989).
RN   [50]
RP   VARIANT FH LEU-685.
RX   PubMed=1464748;
RA   Rubinsztein D.C., Coetzee G.A., Marais A.D., Leitersdorf E.,
RA   Seftel H.C., van der Westhuyzen D.R.;
RT   "Identification and properties of the proline664-leucine mutant LDL
RT   receptor in South Africans of Indian origin.";
RL   J. Lipid Res. 33:1647-1655(1992).
RN   [51]
RP   VARIANTS FH PORI HIS-401 AND TURKU ASP-844.
RX   PubMed=7573037;
RA   Koivisto U.-M., Viikari J.S., Kontula K.;
RT   "Molecular characterization of minor gene rearrangements in Finnish
RT   patients with heterozygous familial hypercholesterolemia:
RT   identification of two common missense mutations (Gly823-->Asp and
RT   Leu380-->His) and eight rare mutations of the LDL receptor gene.";
RL   Am. J. Hum. Genet. 57:789-797(1995).
RN   [52]
RP   VARIANTS FH LYS-140; SER-338 AND LEU-685.
RX   PubMed=7583548; DOI=10.1161/01.ATV.15.10.1713;
RA   Maruyama T., Miyake Y., Tajima S., Harada-Shiba M., Yamamura T.,
RA   Tsushima M., Kishino B., Horiguchi Y., Funahashi T., Matsuzawa Y.,
RA   Yamamoto A.;
RT   "Common mutations in the low-density-lipoprotein-receptor gene causing
RT   familial hypercholesterolemia in the Japanese population.";
RL   Arterioscler. Thromb. Vasc. Biol. 15:1713-1718(1995).
RN   [53]
RP   VARIANT FH FRENCH HIS-564.
RX   PubMed=7550239; DOI=10.1002/humu.1380060117;
RA   Tricot-Guerber F., Saint-Jore B., Valenti K., Foulon T., Bost M.,
RA   Hadjian A.J.;
RT   "Identification of a mutation, N543H, in exon 11 of the low-density
RT   lipoprotein receptor gene in a French family with familial
RT   hypercholesterolemia.";
RL   Hum. Mutat. 6:87-88(1995).
RN   [54]
RP   VARIANTS FH LYS-277; THR-423 AND ASN-579.
RX   PubMed=7635461; DOI=10.1007/BF00207370;
RA   Ekstroem U., Abrahamson M., Sveger T., Lombardi P., Nilsson-Ehle P.;
RT   "An efficient screening procedure detecting six novel mutations in the
RT   LDL receptor gene in Swedish children with hypercholesterolemia.";
RL   Hum. Genet. 96:147-150(1995).
RN   [55]
RP   VARIANT FH NORWEGIAN ASN-487 DEL.
RX   PubMed=7635482; DOI=10.1007/BF00207391;
RA   Leren T.P., Solberg K., Rodningen O.K., Tonstad S., Ose L.;
RT   "Two novel point mutations in the EGF precursor homology domain of the
RT   LDL receptor gene causing familial hypercholesterolemia.";
RL   Hum. Genet. 96:241-242(1995).
RN   [56]
RP   VARIANTS FH COLOGNE GLY-221; TYR-221 AND VAL-224.
RX   PubMed=7649546;
RA   Geisel J., Holzem G., Oette K.;
RT   "Screening for mutations in exon 4 of the LDL receptor gene in a
RT   German population with severe hypercholesterolemia.";
RL   Hum. Genet. 96:301-304(1995).
RN   [57]
RP   VARIANTS FH LA HABANA LYS-277; MET-429 AND MET-797.
RX   PubMed=7649549; DOI=10.1007/BF00210415;
RA   Pereira E., Ferreira R., Hermelin B., Thomas G., Bernard C.,
RA   Bertrand V., Nassiff H., Mendez del Castillo D., Bereziat G.,
RA   Benlian P.;
RT   "Recurrent and novel LDL receptor gene mutations causing heterozygous
RT   familial hypercholesterolemia in La Habana.";
RL   Hum. Genet. 96:319-322(1995).
RN   [58]
RP   VARIANTS FH TYR-168 AND ARG-366.
RX   PubMed=8740918;
RA   Gundersen K.E., Solberg K., Rodningen O.K., Tonstad S., Ose L.,
RA   Berg K., Leren T.P.;
RT   "Two novel missense mutations in the LDL receptor gene causing
RT   familial hypercholesterolemia.";
RL   Clin. Genet. 49:85-87(1996).
RN   [59]
RP   VARIANT FH GLY-231.
RX   PubMed=8664907;
RX   DOI=10.1002/(SICI)1098-1004(1996)7:1<70::AID-HUMU12>3.3.CO;2-G;
RA   Sundvold H., Solberg K., Tonstad S., Rodningen O.K., Ose L., Berg K.,
RA   Leren T.P.;
RT   "A common missense mutation (C210G) in the LDL receptor gene among
RT   Norwegian familial hypercholesterolemia subjects.";
RL   Hum. Mutat. 7:70-71(1996).
RN   [60]
RP   VARIANTS FH ARG-197; TYR-248; ALA-301; TRP-302 AND PRO-350.
RX   PubMed=9026534;
RA   Webb J.C., Sun X.-M., McCarthy S.N., Neuwirth C., Thompson G.R.,
RA   Knigh B., Soutar A.K.;
RT   "Characterization of mutations in the low density lipoprotein (LDL)-
RT   receptor gene in patients with homozygous familial
RT   hypercholesterolemia, and frequency of these mutations in FH patients
RT   in the United Kingdom.";
RL   J. Lipid Res. 37:368-381(1996).
RN   [61]
RP   VARIANT FH LEU-685.
RX   PubMed=9254862; DOI=10.1007/s004390050503;
RA   Peeters A.V., van Gaal L.F., du Plessis L., Lombardi M.P.R.,
RA   Havekes L.M., Kotze M.J.;
RT   "Mutational and genetic origin of LDL receptor gene mutations detected
RT   in both Belgian and Dutch familial hypercholesterolemics.";
RL   Hum. Genet. 100:266-270(1997).
RN   [62]
RP   VARIANTS FH HIS-564 AND 799-LEU--PHE-801 DEL.
RX   PubMed=9143924;
RX   DOI=10.1002/(SICI)1098-1004(1997)9:5<437::AID-HUMU10>3.0.CO;2-3;
RA   Jensen H.K., Jensen T.G., Faergeman O., Jensen L.G., Andresen B.S.,
RA   Corydon M.J., Andreasen P.H., Hansen P.S., Heath F., Bolund L.,
RA   Gregersen N.;
RT   "Two mutations in the same low-density lipoprotein receptor allele act
RT   in synergy to reduce receptor function in heterozygous familial
RT   hypercholesterolemia.";
RL   Hum. Mutat. 9:437-444(1997).
RN   [63]
RP   VARIANTS FH TRP-27; CYS-78; GLY-87; TYR-89; ASN-90; GLY-90; LYS-101;
RP   TYR-160; ASN-168; LEU-177; GLY-221; GLU-227; ARG-286; TYR-313;
RP   TYR-327; ASN-342; PRO-350; ASP-399; TRP-416; HIS-482; ARG-483;
RP   SER-526; ASP-549; CYS-633; LEU-649 AND ILE-726.
RX   PubMed=9259195;
RX   DOI=10.1002/(SICI)1098-1004(1997)10:2<116::AID-HUMU4>3.3.CO;2-#;
RA   Day I.N.M., Whittall R.A., O'Dell S.D., Haddad L., Bolla M.K.,
RA   Gudnason V., Humphries S.E.;
RT   "Spectrum of LDL receptor gene mutations in heterozygous familial
RT   hypercholesterolemia.";
RL   Hum. Mutat. 10:116-127(1997).
RN   [64]
RP   VARIANTS FH PRO-56; TYR-175; TYR-356; VAL-401 AND TRP-416.
RX   PubMed=9104431; DOI=10.1046/j.1365-2796.1997.78119000.x;
RA   Leren T.P., Tonstad S., Gundersen K.E., Bakken K.S., Rodningen O.K.,
RA   Sundvold H., Ose L., Berg K.;
RT   "Molecular genetics of familial hypercholesterolaemia in Norway.";
RL   J. Intern. Med. 241:185-194(1997).
RN   [65]
RP   VARIANTS FH LEU-177; GLY-218 DEL; SER-564 AND GLU-592.
RX   PubMed=9654205; DOI=10.1007/s004390050740;
RA   Gorski B., Kubalska J., Naruszewicz M., Lubinski J.;
RT   "LDL-R and Apo-B-100 gene mutations in Polish familial
RT   hypercholesterolemias.";
RL   Hum. Genet. 102:562-565(1998).
RN   [66]
RP   VARIANTS FH TRP-173 AND ARG-368.
RX   PubMed=9452094;
RA   Couture P., Vohl M.-C., Gagne C., Gaudet D., Torres A.L., Lupien P.J.,
RA   Despres J.-P., Labrie F., Simard J., Moorjani S.;
RT   "Identification of three mutations in the low-density lipoprotein
RT   receptor gene causing familial hypercholesterolemia among French
RT   Canadians.";
RL   Hum. Mutat. Suppl. 1:S226-S231(1998).
RN   [67]
RP   VARIANTS FH GLN-416 AND MET-429.
RX   PubMed=9452095;
RA   Thiart R., Loubser O., de Villiers J.N.P., Marx M.P., Zaire R.,
RA   Raal F.J., Kotze M.J.;
RT   "Two novel and two known low-density lipoprotein receptor gene
RT   mutations in German patients with familial hypercholesterolemia.";
RL   Hum. Mutat. Suppl. 1:S232-S233(1998).
RN   [68]
RP   VARIANTS FH TYR-329; ARG-414 AND MET-429.
RX   PubMed=9452118;
RA   Mak Y.T., Zhang J., Chan Y.S., Mak T.W.L., Tomlinson B.,
RA   Masarei J.R.L., Pang C.P.;
RT   "Possible common mutations in the low density lipoprotein receptor
RT   gene in Chinese.";
RL   Hum. Mutat. Suppl. 1:S310-S313(1998).
RN   [69]
RP   VARIANTS FH GLU-92; GLY-95; ARG-116; LEU-177; GLY-221; TYR-221;
RP   LYS-277; TYR-302; LYS-434; TYR-667 AND GLU-700.
RX   PubMed=10206683;
RX   DOI=10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU17>3.3.CO;2-6;
RA   Cenarro A., Jensen H.K., Casao E., Civeira F., Gonzalez-Bonillo J.,
RA   Rodriguez-Rey J.C., Gregersen N., Pocovi M.;
RT   "Identification of recurrent and novel mutations in the LDL receptor
RT   gene in Spanish patients with familial hypercholesterolemia.";
RL   Hum. Mutat. 11:413-413(1998).
RN   [70]
RP   VARIANT FH CHIETI-3 GLU-228 DELINS CYS-LYS.
RX   PubMed=10660340;
RA   Motti C., Bertolini S., Rampa P., Trovatello G., Liberatoscioli L.,
RA   Calandra S., Federici G., Cortese C.;
RT   "Two novel mutations consisting in minor gene rearrangements in the
RT   human low density lipoprotein receptor gene in Italian patients
RT   affected by familial hypercholesterolemia.";
RL   Hum. Mutat. 12:290-290(1998).
RN   [71]
RP   VARIANT FH TYR-276.
RA   Vergopoulos A., Bajari T., Jouma M., Aydin A., Boehring S., Luft F.C.,
RA   Schuster H.;
RT   "A novel single amino acid substitution in exon 6 of the low-density
RT   lipoprotein receptor gene in a Syrian family.";
RL   Hum. Mutat. 12:365-365(1998).
RN   [72]
RP   VARIANTS FH TYR-379 AND SER-608.
RX   PubMed=9852677; DOI=10.1007/s100380050083;
RA   Hirayama T., Yamaki E., Hata A., Tsuji M., Hashimoto K., Yamamoto M.,
RA   Emi M.;
RT   "Five familial hypercholesterolemic kindreds in Japan with novel
RT   mutations of the LDL receptor gene.";
RL   J. Hum. Genet. 43:250-254(1998).
RN   [73]
RP   VARIANT FH GLASCO TYR-184.
RX   PubMed=9678702; DOI=10.1136/jmg.35.7.573;
RA   Lee W.K., Haddad L., Macleod M.J., Dorrance A.M., Wilson D.J.,
RA   Gaffney D., Dominiczak M.H., Packard C.J., Day I.N., Humphries S.E.,
RA   Dominiczak A.F.;
RT   "Identification of a common low density lipoprotein receptor mutation
RT   (C163Y) in the west of Scotland.";
RL   J. Med. Genet. 35:573-578(1998).
RN   [74]
RP   VARIANTS FH GLY-87; LYS-140; ASN-172; ARG-243; LEU-306; PRO-404;
RP   HIS-564; SER-577; ASN-579; ILE-726 AND LYS-825.
RX   PubMed=10532689; DOI=10.1016/S0021-9150(99)00158-6;
RA   Jensen H.K., Jensen L.G., Meinertz H., Hansen P.S., Gregersen N.,
RA   Faergeman O.;
RT   "Spectrum of LDL receptor gene mutations in Denmark: implications for
RT   molecular diagnostic strategy in heterozygous familial
RT   hypercholesterolemia.";
RL   Atherosclerosis 146:337-344(1999).
RN   [75]
RP   VARIANT FH PHE-261.
RX   PubMed=10422803; DOI=10.1034/j.1399-0004.1999.550506.x;
RA   Ekstroem U., Abrahamson M., Floren C.-H., Tollig H., Wettrell G.,
RA   Nilsson G., Sun X.-M., Soutar A.K., Nilsson-Ehle P.;
RT   "An individual with a healthy phenotype in spite of a pathogenic LDL
RT   receptor mutation (C240F).";
RL   Clin. Genet. 55:332-339(1999).
RN   [76]
RP   VARIANTS FH SER-50; ASN-221; LYS-288; VAL-432 AND HIS-564.
RX   PubMed=10090484;
RX   DOI=10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU14>3.3.CO;2-4;
RA   Ebhardt M., Schmidt H., Doerk T., Tietge U., Haas R., Manns M.-P.,
RA   Schmidtke J., Stuhrmann M.;
RT   "Mutation analysis in 46 German families with familial
RT   hypercholesterolemia: identification of 8 new mutations.";
RL   Hum. Mutat. 13:257-257(1999).
RN   [77]
RP   VARIANTS FH SER-338; LEU-403; THR-431; VAL-568 AND LYS-714.
RX   PubMed=10447263;
RX   DOI=10.1002/(SICI)1098-1004(1999)14:1<87::AID-HUMU13>3.3.CO;2-H;
RA   Hattori H., Nagano M., Iwata F., Homma Y., Egashira T., Okada T.;
RT   "Identification of recurrent and novel mutations in the LDL receptor
RT   gene in Japanese familial hypercholesterolemia.";
RL   Hum. Mutat. 14:87-87(1999).
RN   [78]
RP   VARIANTS ARG-2; ILE-468 AND GLN-814.
RX   PubMed=10391209; DOI=10.1038/10290;
RA   Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N.,
RA   Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L.,
RA   Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q.,
RA   Lander E.S.;
RT   "Characterization of single-nucleotide polymorphisms in coding regions
RT   of human genes.";
RL   Nat. Genet. 22:231-238(1999).
RN   [79]
RP   ERRATUM.
RA   Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N.,
RA   Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L.,
RA   Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q.,
RA   Lander E.S.;
RL   Nat. Genet. 23:373-373(1999).
RN   [80]
RP   VARIANTS FH PHE-134; TRP-134; TYR-222; PRO-254; ARG-276; ARG-318;
RP   THR-370; GLY-415 AND TYR-579.
RX   PubMed=10978268; DOI=10.1161/01.ATV.20.9.e41;
RA   Bertolini S., Cantafora A., Averna M., Cortese C., Motti C.,
RA   Martini S., Pes G., Postiglione A., Stefanutti C., Blotta I.,
RA   Pisciotta L., Rolleri M., Langheim S., Ghisellini M., Rabbone I.,
RA   Calandra S.;
RT   "Clinical expression of familial hypercholesterolemia in clusters of
RT   mutations of the LDL receptor gene that cause a receptor-defective or
RT   receptor-negative phenotype.";
RL   Arterioscler. Thromb. Vasc. Biol. 20:E41-E52(2000).
RN   [81]
RP   VARIANT FH THR-451.
RX   PubMed=10980548;
RX   DOI=10.1002/1098-1004(200009)16:3<277::AID-HUMU24>3.0.CO;2-Y;
RA   Miltiadous G., Elisaf M., Xenophontos S., Manoli P., Cariolou M.A.;
RT   "Segregation of a novel LDLR gene mutation (I430T) with familial
RT   hypercholesterolaemia in a Greek pedigree.";
RL   Hum. Mutat. 16:277-277(2000).
RN   [82]
RP   VARIANT FH 47-ASP-GLY-48 DEL, AND VARIANTS HIS-172; TRP-253; GLN-406;
RP   LYS-408; LEU-699 AND GLN-814.
RX   PubMed=10882754; DOI=10.1136/jmg.37.7.514;
RA   Thiart R., Scholtz C.L., Vergotine J., Hoogendijk C.F.,
RA   de Villiers J.N.P., Nissen H., Brusgaard K., Gaffney D., Hoffs M.S.,
RA   Vermaak W.J.H., Kotze M.J.;
RT   "Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in
RT   Africans with familial hypercholesterolaemia.";
RL   J. Med. Genet. 37:514-519(2000).
RN   [83]
RP   VARIANT FH SER-46.
RX   PubMed=11298688; DOI=10.1034/j.1399-0004.2001.590414.x;
RA   Takahashi M., Ikeda U., Takahashi S., Hattori H., Iwasaki T.,
RA   Ishihara M., Egashira T., Honma S., Asano Y., Shimada K.A.;
RT   "A novel mutation in exon 2 of the low-density lipoprotein-receptor
RT   gene in a patient with homozygous familial hypercholesterolemia.";
RL   Clin. Genet. 59:290-292(2001).
RN   [84]
RP   INVOLVEMENT IN FH, VARIANTS FH ARG-143; TYR-148; TRP-184; CYS-574;
RP   ASP-639 AND ASP-806, AND VARIANTS TRP-257 AND ILE-742.
RX   PubMed=11462246; DOI=10.1002/humu.1171;
RA   Nauck M.S., Koester W., Doerfer K., Eckes J., Scharnagl H.,
RA   Gierens H., Nissen H., Nauck M.A., Wieland H., Maerz W.;
RT   "Identification of recurrent and novel mutations in the LDL receptor
RT   gene in German patients with familial hypercholesterolemia.";
RL   Hum. Mutat. 18:165-166(2001).
RN   [85]
RP   VARIANTS FH TYR-89; LYS-101; GLY-218 DEL; GLY-221; ASN-221; TYR-358;
RP   PRO-479; HIS-482; ARG-677 AND LEU-685, AND FUNCTION.
RX   PubMed=17142622; DOI=10.1136/jmg.2006.038356;
RG   Simon Broome familial hyperlipidemia register group and scientific steering committee;
RA   Humphries S.E., Whittall R.A., Hubbart C.S., Maplebeck S.,
RA   Cooper J.A., Soutar A.K., Naoumova R., Thompson G.R., Seed M.,
RA   Durrington P.N., Miller J.P., Betteridge D.J.B., Neil H.A.W.;
RT   "Genetic causes of familial hypercholesterolaemia in patients in the
RT   UK: relation to plasma lipid levels and coronary heart disease risk.";
RL   J. Med. Genet. 43:943-949(2006).
RN   [86]
RP   VARIANTS FH THR-50; LEU-211; GLY-221; GLU-266; LYS-277; ARG-286;
RP   ARG-314; ARG-352; LYS-408; THR-431; HIS-442; MET-523; GLY-577; THR-585
RP   AND LEU-685.
RX   PubMed=17347910; DOI=10.1007/s10545-007-0563-5;
RA   Widhalm K., Dirisamer A., Lindemayr A., Kostner G.;
RT   "Diagnosis of families with familial hypercholesterolaemia and/or Apo
RT   B-100 defect by means of DNA analysis of LDL-receptor gene
RT   mutations.";
RL   J. Inherit. Metab. Dis. 30:239-247(2007).
RN   [87]
RP   VARIANTS FH TYR-155; GLY-300; GLY-301; TRP-416 AND ASN-454.
RX   PubMed=19318025; DOI=10.1016/j.clinbiochem.2009.01.017;
RA   Alonso R., Defesche J.C., Tejedor D., Castillo S., Stef M., Mata N.,
RA   Gomez-Enterria P., Martinez-Faedo C., Forga L., Mata P.;
RT   "Genetic diagnosis of familial hypercholesterolemia using a DNA-array
RT   based platform.";
RL   Clin. Biochem. 42:899-903(2009).
RN   [88]
RP   VARIANTS FH PRO-254; TYR-356; TYR-358; THR-451 AND SER-826.
RX   PubMed=19319977; DOI=10.1002/humu.21002;
RA   Abifadel M., Rabes J.-P., Jambart S., Halaby G., Gannage-Yared M.-H.,
RA   Sarkis A., Beaino G., Varret M., Salem N., Corbani S., Aydenian H.,
RA   Junien C., Munnich A., Boileau C.;
RT   "The molecular basis of familial hypercholesterolemia in Lebanon:
RT   spectrum of LDLR mutations and role of PCSK9 as a modifier gene.";
RL   Hum. Mutat. 30:E682-E691(2009).
RN   [89]
RP   VARIANTS HIS-139; LYS-201; SER-255; ASN-304 AND GLY-471.
RX   PubMed=21418584; DOI=10.1186/1471-2350-12-40;
RA   Al-Khateeb A., Zahri M.K., Mohamed M.S., Sasongko T.H., Ibrahim S.,
RA   Yusof Z., Zilfalil B.A.;
RT   "Analysis of sequence variations in low-density lipoprotein receptor
RT   gene among Malaysian patients with familial hypercholesterolemia.";
RL   BMC Med. Genet. 12:40-40(2011).
RN   [90]
RP   VARIANT FH PHE-329.
RX   PubMed=22160468; DOI=10.1007/s11033-011-1314-0;
RA   Walus-Miarka M., Sanak M., Idzior-Walus B., Miarka P., Witek P.,
RA   Malecki M.T., Czarnecka D.;
RT   "A novel mutation (Cys308Phe) of the LDL receptor gene in families
RT   from the South-Eastern part of Poland.";
RL   Mol. Biol. Rep. 39:5181-5186(2012).
RN   [91]
RP   VARIANTS FH TYR-160; ALA-168; LEU-177; TYR-184; GLY-221; GLN-228;
RP   LYS-228; TRP-276; TYR-285; GLY-301; PHE-318; CYS-326; SER-343;
RP   TYR-368; ASP-373; TRP-406; MET-429; ASN-492; ASP-549; HIS-564;
RP   HIS-574; TRP-595; HIS-601; LEU-685; LEU-699; MET-797 AND GLN-814.
RX   PubMed=24529145; DOI=10.1016/j.atherosclerosis.2013.12.028;
RA   Santos P.C., Morgan A.C., Jannes C.E., Turolla L., Krieger J.E.,
RA   Santos R.D., Pereira A.C.;
RT   "Presence and type of low density lipoprotein receptor (LDLR) mutation
RT   influences the lipid profile and response to lipid-lowering therapy in
RT   Brazilian patients with heterozygous familial hypercholesterolemia.";
RL   Atherosclerosis 233:206-210(2014).
RN   [92]
RP   CHARACTERIZATION OF VARIANTS FH ARG-116; ASN-168; ASN-172; GLY-300 AND
RP   GLY-301, AND CHARACTERIZATION OF VARIANT TRP-257.
RX   PubMed=25545329; DOI=10.1016/j.atherosclerosis.2014.12.026;
RA   Etxebarria A., Benito-Vicente A., Stef M., Ostolaza H., Palacios L.,
RA   Martin C.;
RT   "Activity-associated effect of LDL receptor missense variants located
RT   in the cysteine-rich repeats.";
RL   Atherosclerosis 238:304-312(2015).
RN   [93]
RP   CHARACTERIZATION OF VARIANTS FH TYR-155; TRP-416; ASN-454; GLY-577 AND
RP   LYS-825.
RX   PubMed=25378237; DOI=10.1002/humu.22721;
RA   Etxebarria A., Benito-Vicente A., Palacios L., Stef M., Cenarro A.,
RA   Civeira F., Ostolaza H., Martin C.;
RT   "Functional characterization and classification of frequent low-
RT   density lipoprotein receptor variants.";
RL   Hum. Mutat. 36:129-141(2015).
CC   -!- FUNCTION: Binds LDL, the major cholesterol-carrying lipoprotein of
CC       plasma, and transports it into cells by endocytosis. In order to
CC       be internalized, the receptor-ligand complexes must first cluster
CC       into clathrin-coated pits. {ECO:0000269|PubMed:3005267,
CC       ECO:0000269|PubMed:6091915}.
CC   -!- FUNCTION: (Microbial infection) Acts as a receptor for hepatitis C
CC       virus in hepatocytes, but not through a direct interaction with
CC       viral proteins. {ECO:0000269|PubMed:10535997,
CC       ECO:0000269|PubMed:12615904}.
CC   -!- FUNCTION: (Microbial infection) Acts as a receptor for Vesicular
CC       stomatitis virus. {ECO:0000269|PubMed:23589850}.
CC   -!- FUNCTION: (Microbial infection) In case of HIV-1 infection, may
CC       function as a receptor for extracellular Tat in neurons, mediating
CC       its internalization in uninfected cells.
CC       {ECO:0000269|PubMed:11100124}.
CC   -!- SUBUNIT: Interacts (via NPXY motif) with DAB2 (via PID domain);
CC       the interaction is impaired by tyrosine phosphorylation of the
CC       NPXY motif (By similarity). Interacts (via NPXY motif) with
CC       LDLRAP1 (via PID domain) (PubMed:12221107, PubMed:22509010).
CC       Interacts with ARRB1 (PubMed:12944399). Interacts with SNX17
CC       (PubMed:14739284). Interacts with the full-length immature form of
CC       PCSK9 (via C-terminus) (PubMed:17461796, PubMed:21149300).
CC       {ECO:0000250|UniProtKB:P35951, ECO:0000269|PubMed:12221107,
CC       ECO:0000269|PubMed:12944399, ECO:0000269|PubMed:14739284,
CC       ECO:0000269|PubMed:17461796, ECO:0000269|PubMed:21149300,
CC       ECO:0000269|PubMed:22509010}.
CC   -!- SUBUNIT: (Microbial infection) Interacts with vesicular stomatitis
CC       virus glycoprotein. {ECO:0000269|PubMed:23589850}.
CC   -!- SUBUNIT: (Microbial infection) May interact with HIV-1 Tat.
CC       {ECO:0000269|PubMed:11100124}.
CC   -!- INTERACTION:
CC       Self; NbExp=3; IntAct=EBI-988319, EBI-988319;
CC       P04114:APOB; NbExp=4; IntAct=EBI-988319, EBI-3926040;
CC       P02649:APOE; NbExp=2; IntAct=EBI-988319, EBI-1222467;
CC       P02749:APOH; NbExp=3; IntAct=EBI-988319, EBI-2114682;
CC       D3ZAR1:Ldlrap1 (xeno); NbExp=3; IntAct=EBI-988319, EBI-9250714;
CC       Q8NBP7:PCSK9; NbExp=10; IntAct=EBI-988319, EBI-7539251;
CC       Q8NBP7-1:PCSK9; NbExp=4; IntAct=EBI-988319, EBI-15656131;
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17461796,
CC       ECO:0000269|PubMed:19520913}; Single-pass type I membrane protein
CC       {ECO:0000250|UniProtKB:P01131}. Membrane, clathrin-coated pit
CC       {ECO:0000303|PubMed:6091915}. Golgi apparatus
CC       {ECO:0000269|PubMed:17461796}. Early endosome
CC       {ECO:0000269|PubMed:17461796}. Late endosome
CC       {ECO:0000269|PubMed:17461796}. Lysosome
CC       {ECO:0000269|PubMed:17461796}. Note=Rapidly endocytosed upon
CC       ligand binding. {ECO:0000269|PubMed:3104336}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=6;
CC       Name=1;
CC         IsoId=P01130-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=P01130-2; Sequence=VSP_043053, VSP_043054;
CC         Note=No experimental confirmation available.;
CC       Name=3;
CC         IsoId=P01130-3; Sequence=VSP_055014, VSP_055015;
CC         Note=No experimental confirmation available.;
CC       Name=4;
CC         IsoId=P01130-4; Sequence=VSP_043595;
CC         Note=No experimental confirmation available.;
CC       Name=5;
CC         IsoId=P01130-5; Sequence=VSP_045525;
CC         Note=No experimental confirmation available.;
CC       Name=6;
CC         IsoId=P01130-6; Sequence=VSP_047413;
CC         Note=No experimental confirmation available.;
CC   -!- DOMAIN: The NPXY motif mediates the interaction with the clathrin
CC       adapter DAB2 and with LDLRAP1 which are involved in receptor
CC       internalization. A few residues outside the motif also play a role
CC       in the interaction. {ECO:0000269|PubMed:22509010}.
CC   -!- PTM: N- and O-glycosylated. {ECO:0000269|PubMed:12754519,
CC       ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218,
CC       ECO:0000269|PubMed:19520913, ECO:0000269|PubMed:3005267}.
CC   -!- PTM: Ubiquitinated by MYLIP leading to degradation.
CC       {ECO:0000269|PubMed:19520913}.
CC   -!- DISEASE: Familial hypercholesterolemia (FH) [MIM:143890]: A common
CC       autosomal dominant disorder characterized by elevated serum low-
CC       density lipoprotein (LDL) cholesterol levels, which result in
CC       excess deposition of cholesterol in tissues and leads to
CC       xanthelasma, xanthomas, accelerated atherosclerosis and increased
CC       risk of premature coronary heart disease. The disorder occurs in 2
CC       clinical forms: a mild form that becomes evident in the fourth or
CC       fifth decade in individuals carrying heterozygous LDLR mutations;
CC       a more severe form that usually manifests in the first two decades
CC       of life in individuals with homozygous LDLR mutations.
CC       {ECO:0000269|PubMed:10090484, ECO:0000269|PubMed:10206683,
CC       ECO:0000269|PubMed:10422803, ECO:0000269|PubMed:10447263,
CC       ECO:0000269|PubMed:10532689, ECO:0000269|PubMed:10660340,
CC       ECO:0000269|PubMed:10882754, ECO:0000269|PubMed:10978268,
CC       ECO:0000269|PubMed:10980548, ECO:0000269|PubMed:11298688,
CC       ECO:0000269|PubMed:11462246, ECO:0000269|PubMed:1446662,
CC       ECO:0000269|PubMed:1464748, ECO:0000269|PubMed:17142622,
CC       ECO:0000269|PubMed:17347910, ECO:0000269|PubMed:1867200,
CC       ECO:0000269|PubMed:19318025, ECO:0000269|PubMed:19319977,
CC       ECO:0000269|PubMed:22160468, ECO:0000269|PubMed:22509010,
CC       ECO:0000269|PubMed:2318961, ECO:0000269|PubMed:24529145,
CC       ECO:0000269|PubMed:25378237, ECO:0000269|PubMed:25545329,
CC       ECO:0000269|PubMed:2569482, ECO:0000269|PubMed:2726768,
CC       ECO:0000269|PubMed:3263645, ECO:0000269|PubMed:3955657,
CC       ECO:0000269|PubMed:7550239, ECO:0000269|PubMed:7573037,
CC       ECO:0000269|PubMed:7583548, ECO:0000269|PubMed:7635461,
CC       ECO:0000269|PubMed:7635482, ECO:0000269|PubMed:7649546,
CC       ECO:0000269|PubMed:7649549, ECO:0000269|PubMed:8168830,
CC       ECO:0000269|PubMed:8347689, ECO:0000269|PubMed:8462973,
CC       ECO:0000269|PubMed:8664907, ECO:0000269|PubMed:8740918,
CC       ECO:0000269|PubMed:9026534, ECO:0000269|PubMed:9104431,
CC       ECO:0000269|PubMed:9143924, ECO:0000269|PubMed:9254862,
CC       ECO:0000269|PubMed:9259195, ECO:0000269|PubMed:9452094,
CC       ECO:0000269|PubMed:9452095, ECO:0000269|PubMed:9452118,
CC       ECO:0000269|PubMed:9654205, ECO:0000269|PubMed:9678702,
CC       ECO:0000269|PubMed:9852677, ECO:0000269|Ref.71}. Note=The disease
CC       is caused by mutations affecting the gene represented in this
CC       entry.
CC   -!- SIMILARITY: Belongs to the LDLR family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAD92646.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
CC   -!- WEB RESOURCE: Name=LDLR; Note=LDLR mutation database;
CC       URL="https://www.ucl.ac.uk/ldlr/LOVDv.1.1.0/index/";
CC   -!- WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and
CC       polymorphism database;
CC       URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=LDLR";
DR   EMBL; L00352; AAA56833.1; -; Genomic_DNA.
DR   EMBL; L00336; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L00337; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L00338; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L00339; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L00340; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L00341; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L00343; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L00344; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L00345; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L00346; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L00347; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L00348; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L00349; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L00350; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L00351; AAA56833.1; JOINED; Genomic_DNA.
DR   EMBL; L29401; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AY114155; AAM56036.1; -; mRNA.
DR   EMBL; AK295612; BAG58495.1; -; mRNA.
DR   EMBL; AK296312; BAG59010.1; -; mRNA.
DR   EMBL; AK299038; BAG61112.1; -; mRNA.
DR   EMBL; AK300313; BAG62065.1; -; mRNA.
DR   EMBL; BT007361; AAP36025.1; -; mRNA.
DR   EMBL; AY324609; AAP72971.1; -; Genomic_DNA.
DR   EMBL; AB209409; BAD92646.1; ALT_INIT; mRNA.
DR   EMBL; FJ525879; ACN81317.1; -; Genomic_DNA.
DR   EMBL; AC011485; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471106; EAW84169.1; -; Genomic_DNA.
DR   EMBL; BC014514; AAH14514.1; -; mRNA.
DR   CCDS; CCDS12254.1; -. [P01130-1]
DR   CCDS; CCDS56083.1; -. [P01130-2]
DR   CCDS; CCDS56084.1; -. [P01130-3]
DR   CCDS; CCDS56085.1; -. [P01130-4]
DR   CCDS; CCDS58651.1; -. [P01130-5]
DR   PIR; A01383; QRHULD.
DR   RefSeq; NP_000518.1; NM_000527.4. [P01130-1]
DR   RefSeq; NP_001182727.1; NM_001195798.1. [P01130-5]
DR   RefSeq; NP_001182728.1; NM_001195799.1. [P01130-4]
DR   RefSeq; NP_001182729.1; NM_001195800.1. [P01130-3]
DR   RefSeq; NP_001182732.1; NM_001195803.1. [P01130-2]
DR   UniGene; Hs.213289; -.
DR   UniGene; Hs.713981; -.
DR   PDB; 1AJJ; X-ray; 1.70 A; A=196-232.
DR   PDB; 1D2J; NMR; -; A=233-272.
DR   PDB; 1F5Y; NMR; -; A=22-104.
DR   PDB; 1F8Z; NMR; -; A=234-272.
DR   PDB; 1HJ7; NMR; -; A=314-393.
DR   PDB; 1HZ8; NMR; -; A=314-395.
DR   PDB; 1I0U; NMR; -; A=314-395.
DR   PDB; 1IJQ; X-ray; 1.50 A; A/B=398-713.
DR   PDB; 1LDL; NMR; -; A=20-67.
DR   PDB; 1LDR; NMR; -; A=64-104.
DR   PDB; 1LRX; Model; -; B=396-659.
DR   PDB; 1N7D; X-ray; 3.70 A; A=22-720.
DR   PDB; 1XFE; NMR; -; A=272-353.
DR   PDB; 2FCW; X-ray; 1.26 A; B=107-186.
DR   PDB; 2KRI; NMR; -; B=147-186.
DR   PDB; 2LGP; NMR; -; A=144-235.
DR   PDB; 2M7P; NMR; -; A=82-104.
DR   PDB; 2MG9; NMR; -; A=314-339.
DR   PDB; 2W2M; X-ray; 2.40 A; E=314-393.
DR   PDB; 2W2N; X-ray; 2.30 A; E=314-393.
DR   PDB; 2W2O; X-ray; 2.62 A; E=314-393.
DR   PDB; 2W2P; X-ray; 2.62 A; E=314-393.
DR   PDB; 2W2Q; X-ray; 2.33 A; E=314-393.
DR   PDB; 3BPS; X-ray; 2.41 A; E=314-393.
DR   PDB; 3GCW; X-ray; 2.70 A; E=314-393.
DR   PDB; 3GCX; X-ray; 2.70 A; E=314-393.
DR   PDB; 3M0C; X-ray; 7.01 A; C=4-788.
DR   PDB; 3P5B; X-ray; 3.30 A; L=316-715.
DR   PDB; 3P5C; X-ray; 4.20 A; L=276-715.
DR   PDB; 3SO6; X-ray; 1.37 A; Q=819-832.
DR   PDB; 4NE9; X-ray; 2.60 A; D=314-339.
DR   PDB; 5OY9; X-ray; 3.60 A; D=108-144.
DR   PDB; 5OYL; X-ray; 2.25 A; D=65-106.
DR   PDBsum; 1AJJ; -.
DR   PDBsum; 1D2J; -.
DR   PDBsum; 1F5Y; -.
DR   PDBsum; 1F8Z; -.
DR   PDBsum; 1HJ7; -.
DR   PDBsum; 1HZ8; -.
DR   PDBsum; 1I0U; -.
DR   PDBsum; 1IJQ; -.
DR   PDBsum; 1LDL; -.
DR   PDBsum; 1LDR; -.
DR   PDBsum; 1LRX; -.
DR   PDBsum; 1N7D; -.
DR   PDBsum; 1XFE; -.
DR   PDBsum; 2FCW; -.
DR   PDBsum; 2KRI; -.
DR   PDBsum; 2LGP; -.
DR   PDBsum; 2M7P; -.
DR   PDBsum; 2MG9; -.
DR   PDBsum; 2W2M; -.
DR   PDBsum; 2W2N; -.
DR   PDBsum; 2W2O; -.
DR   PDBsum; 2W2P; -.
DR   PDBsum; 2W2Q; -.
DR   PDBsum; 3BPS; -.
DR   PDBsum; 3GCW; -.
DR   PDBsum; 3GCX; -.
DR   PDBsum; 3M0C; -.
DR   PDBsum; 3P5B; -.
DR   PDBsum; 3P5C; -.
DR   PDBsum; 3SO6; -.
DR   PDBsum; 4NE9; -.
DR   PDBsum; 5OY9; -.
DR   PDBsum; 5OYL; -.
DR   ProteinModelPortal; P01130; -.
DR   SMR; P01130; -.
DR   BioGrid; 110141; 44.
DR   ComplexPortal; CPX-128; LDLR-PCSK9 complex.
DR   DIP; DIP-29695N; -.
DR   ELM; P01130; -.
DR   IntAct; P01130; 17.
DR   MINT; P01130; -.
DR   STRING; 9606.ENSP00000454071; -.
DR   BindingDB; P01130; -.
DR   ChEMBL; CHEMBL3311; -.
DR   DrugBank; DB00707; Porfimer.
DR   GlyConnect; 343; -.
DR   iPTMnet; P01130; -.
DR   PhosphoSitePlus; P01130; -.
DR   UniCarbKB; P01130; -.
DR   BioMuta; LDLR; -.
DR   DMDM; 126073; -.
DR   EPD; P01130; -.
DR   jPOST; P01130; -.
DR   MaxQB; P01130; -.
DR   PaxDb; P01130; -.
DR   PeptideAtlas; P01130; -.
DR   PRIDE; P01130; -.
DR   ProteomicsDB; 51326; -.
DR   ProteomicsDB; 51327; -. [P01130-2]
DR   ProteomicsDB; 51328; -. [P01130-3]
DR   ProteomicsDB; 51329; -. [P01130-4]
DR   DNASU; 3949; -.
DR   Ensembl; ENST00000455727; ENSP00000397829; ENSG00000130164. [P01130-3]
DR   Ensembl; ENST00000535915; ENSP00000440520; ENSG00000130164. [P01130-4]
DR   Ensembl; ENST00000545707; ENSP00000437639; ENSG00000130164. [P01130-2]
DR   Ensembl; ENST00000558013; ENSP00000453346; ENSG00000130164. [P01130-5]
DR   Ensembl; ENST00000558518; ENSP00000454071; ENSG00000130164. [P01130-1]
DR   GeneID; 3949; -.
DR   KEGG; hsa:3949; -.
DR   UCSC; uc002mqk.5; human. [P01130-1]
DR   CTD; 3949; -.
DR   DisGeNET; 3949; -.
DR   EuPathDB; HostDB:ENSG00000130164.11; -.
DR   GeneCards; LDLR; -.
DR   GeneReviews; LDLR; -.
DR   HGNC; HGNC:6547; LDLR.
DR   HPA; HPA009647; -.
DR   HPA; HPA013159; -.
DR   MalaCards; LDLR; -.
DR   MIM; 143890; phenotype.
DR   MIM; 606945; gene.
DR   neXtProt; NX_P01130; -.
DR   OpenTargets; ENSG00000130164; -.
DR   Orphanet; 391665; Homozygous familial hypercholesterolemia.
DR   Orphanet; 406; NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia.
DR   PharmGKB; PA227; -.
DR   eggNOG; ENOG410IPSW; Eukaryota.
DR   eggNOG; ENOG410Z5FJ; LUCA.
DR   GeneTree; ENSGT00940000161046; -.
DR   HOGENOM; HOG000115656; -.
DR   HOVERGEN; HBG006250; -.
DR   InParanoid; P01130; -.
DR   KO; K12473; -.
DR   OrthoDB; 1152704at2759; -.
DR   PhylomeDB; P01130; -.
DR   TreeFam; TF351700; -.
DR   Reactome; R-HSA-8856825; Cargo recognition for clathrin-mediated endocytosis.
DR   Reactome; R-HSA-8856828; Clathrin-mediated endocytosis.
DR   Reactome; R-HSA-8964026; Chylomicron clearance.
DR   Reactome; R-HSA-8964038; LDL clearance.
DR   Reactome; R-HSA-975634; Retinoid metabolism and transport.
DR   SIGNOR; P01130; -.
DR   ChiTaRS; LDLR; human.
DR   EvolutionaryTrace; P01130; -.
DR   GeneWiki; LDL_receptor; -.
DR   GenomeRNAi; 3949; -.
DR   PRO; PR:P01130; -.
DR   Proteomes; UP000005640; Chromosome 19.
DR   Bgee; ENSG00000130164; Expressed in 222 organ(s), highest expression level in adrenal tissue.
DR   ExpressionAtlas; P01130; baseline and differential.
DR   Genevisible; P01130; HS.
DR   GO; GO:0045177; C:apical part of cell; ISS:BHF-UCL.
DR   GO; GO:0016323; C:basolateral plasma membrane; ISS:BHF-UCL.
DR   GO; GO:0009986; C:cell surface; IDA:UniProtKB.
DR   GO; GO:0030669; C:clathrin-coated endocytic vesicle membrane; TAS:Reactome.
DR   GO; GO:0005905; C:clathrin-coated pit; IDA:BHF-UCL.
DR   GO; GO:0005769; C:early endosome; IDA:UniProtKB.
DR   GO; GO:0036020; C:endolysosome membrane; TAS:Reactome.
DR   GO; GO:0010008; C:endosome membrane; TAS:Reactome.
DR   GO; GO:0009897; C:external side of plasma membrane; IDA:BHF-UCL.
DR   GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
DR   GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR   GO; GO:0005622; C:intracellular; ISS:ARUK-UCL.
DR   GO; GO:0005770; C:late endosome; IDA:UniProtKB.
DR   GO; GO:0034362; C:low-density lipoprotein particle; IEA:UniProtKB-KW.
DR   GO; GO:0005764; C:lysosome; IDA:UniProtKB.
DR   GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR   GO; GO:1990666; C:PCSK9-LDLR complex; IDA:BHF-UCL.
DR   GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR   GO; GO:0043235; C:receptor complex; IDA:MGI.
DR   GO; GO:0036477; C:somatodendritic compartment; IEA:Ensembl.
DR   GO; GO:0097443; C:sorting endosome; IEA:Ensembl.
DR   GO; GO:0001540; F:amyloid-beta binding; ISS:ARUK-UCL.
DR   GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR   GO; GO:0032050; F:clathrin heavy chain binding; TAS:BHF-UCL.
DR   GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR   GO; GO:0030169; F:low-density lipoprotein particle binding; IMP:BHF-UCL.
DR   GO; GO:0005041; F:low-density lipoprotein particle receptor activity; IDA:BHF-UCL.
DR   GO; GO:0002020; F:protease binding; IPI:BHF-UCL.
DR   GO; GO:0030229; F:very-low-density lipoprotein particle receptor activity; IDA:BHF-UCL.
DR   GO; GO:0001618; F:virus receptor activity; IEA:UniProtKB-KW.
DR   GO; GO:0097242; P:amyloid-beta clearance; ISS:ARUK-UCL.
DR   GO; GO:0150094; P:amyloid-beta clearance by cellular catabolic process; ISS:ARUK-UCL.
DR   GO; GO:0071398; P:cellular response to fatty acid; IEA:Ensembl.
DR   GO; GO:0071404; P:cellular response to low-density lipoprotein particle stimulus; IMP:BHF-UCL.
DR   GO; GO:0042632; P:cholesterol homeostasis; IMP:BHF-UCL.
DR   GO; GO:0070508; P:cholesterol import; IMP:BHF-UCL.
DR   GO; GO:0008203; P:cholesterol metabolic process; IEA:UniProtKB-KW.
DR   GO; GO:0030301; P:cholesterol transport; IMP:HGNC.
DR   GO; GO:0034382; P:chylomicron remnant clearance; TAS:Reactome.
DR   GO; GO:0006897; P:endocytosis; TAS:ProtInc.
DR   GO; GO:0034384; P:high-density lipoprotein particle clearance; IEA:Ensembl.
DR   GO; GO:0030299; P:intestinal cholesterol absorption; IMP:HGNC.
DR   GO; GO:0006629; P:lipid metabolic process; TAS:ProtInc.
DR   GO; GO:0042159; P:lipoprotein catabolic process; IEA:Ensembl.
DR   GO; GO:0007616; P:long-term memory; IGI:ARUK-UCL.
DR   GO; GO:0034383; P:low-density lipoprotein particle clearance; IMP:BHF-UCL.
DR   GO; GO:0061024; P:membrane organization; TAS:Reactome.
DR   GO; GO:1905907; P:negative regulation of amyloid fibril formation; ISS:ARUK-UCL.
DR   GO; GO:0061889; P:negative regulation of astrocyte activation; ISS:ARUK-UCL.
DR   GO; GO:0010629; P:negative regulation of gene expression; IEA:Ensembl.
DR   GO; GO:1903979; P:negative regulation of microglial cell activation; ISS:ARUK-UCL.
DR   GO; GO:0051248; P:negative regulation of protein metabolic process; ISS:ARUK-UCL.
DR   GO; GO:0006909; P:phagocytosis; ISS:ARUK-UCL.
DR   GO; GO:0015914; P:phospholipid transport; ISS:BHF-UCL.
DR   GO; GO:0034381; P:plasma lipoprotein particle clearance; ISS:ARUK-UCL.
DR   GO; GO:0010628; P:positive regulation of gene expression; IEA:Ensembl.
DR   GO; GO:0050729; P:positive regulation of inflammatory response; IEA:Ensembl.
DR   GO; GO:1905167; P:positive regulation of lysosomal protein catabolic process; ISS:ARUK-UCL.
DR   GO; GO:0010867; P:positive regulation of triglyceride biosynthetic process; ISS:BHF-UCL.
DR   GO; GO:0006898; P:receptor-mediated endocytosis; ISS:ARUK-UCL.
DR   GO; GO:0090118; P:receptor-mediated endocytosis involved in cholesterol transport; IMP:BHF-UCL.
DR   GO; GO:0090181; P:regulation of cholesterol metabolic process; IEA:Ensembl.
DR   GO; GO:0010899; P:regulation of phosphatidylcholine catabolic process; ISS:BHF-UCL.
DR   GO; GO:0051246; P:regulation of protein metabolic process; IGI:ARUK-UCL.
DR   GO; GO:0061771; P:response to caloric restriction; IGI:ARUK-UCL.
DR   CDD; cd00112; LDLa; 7.
DR   Gene3D; 2.120.10.30; -; 1.
DR   InterPro; IPR011042; 6-blade_b-propeller_TolB-like.
DR   InterPro; IPR001881; EGF-like_Ca-bd_dom.
DR   InterPro; IPR013032; EGF-like_CS.
DR   InterPro; IPR000742; EGF-like_dom.
DR   InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site.
DR   InterPro; IPR018097; EGF_Ca-bd_CS.
DR   InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
DR   InterPro; IPR036055; LDL_receptor-like_sf.
DR   InterPro; IPR023415; LDLR_class-A_CS.
DR   InterPro; IPR000033; LDLR_classB_rpt.
DR   InterPro; IPR002172; LDrepeatLR_classA_rpt.
DR   Pfam; PF07645; EGF_CA; 1.
DR   Pfam; PF00057; Ldl_recept_a; 7.
DR   Pfam; PF00058; Ldl_recept_b; 5.
DR   PRINTS; PR00261; LDLRECEPTOR.
DR   SMART; SM00181; EGF; 3.
DR   SMART; SM00179; EGF_CA; 2.
DR   SMART; SM00192; LDLa; 7.
DR   SMART; SM00135; LY; 5.
DR   SUPFAM; SSF57184; SSF57184; 1.
DR   SUPFAM; SSF57424; SSF57424; 7.
DR   PROSITE; PS00010; ASX_HYDROXYL; 2.
DR   PROSITE; PS01186; EGF_2; 2.
DR   PROSITE; PS50026; EGF_3; 2.
DR   PROSITE; PS01187; EGF_CA; 1.
DR   PROSITE; PS01209; LDLRA_1; 7.
DR   PROSITE; PS50068; LDLRA_2; 7.
DR   PROSITE; PS51120; LDLRB; 5.
PE   1: Evidence at protein level;
KW   3D-structure; Alternative splicing; Cell membrane;
KW   Cholesterol metabolism; Coated pit; Complete proteome;
KW   Direct protein sequencing; Disease mutation; Disulfide bond;
KW   EGF-like domain; Endocytosis; Endosome; Glycoprotein; Golgi apparatus;
KW   Host cell receptor for virus entry; Host-virus interaction; LDL;
KW   Lipid metabolism; Lipid transport; Lysosome; Membrane; Phosphoprotein;
KW   Polymorphism; Receptor; Reference proteome; Repeat; Signal;
KW   Steroid metabolism; Sterol metabolism; Transmembrane;
KW   Transmembrane helix; Transport; Ubl conjugation.
FT   SIGNAL        1     21       {ECO:0000250|UniProtKB:P01131}.
FT   CHAIN        22    860       Low-density lipoprotein receptor.
FT                                /FTId=PRO_0000017312.
FT   TOPO_DOM     22    788       Extracellular.
FT                                {ECO:0000250|UniProtKB:P01131}.
FT   TRANSMEM    789    810       Helical. {ECO:0000255}.
FT   TOPO_DOM    811    860       Cytoplasmic.
FT                                {ECO:0000269|PubMed:22509010}.
FT   DOMAIN       25     65       LDL-receptor class A 1.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00124}.
FT   DOMAIN       66    106       LDL-receptor class A 2.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00124}.
FT   DOMAIN      107    145       LDL-receptor class A 3.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00124}.
FT   DOMAIN      146    186       LDL-receptor class A 4.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00124}.
FT   DOMAIN      195    233       LDL-receptor class A 5.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00124}.
FT   DOMAIN      234    272       LDL-receptor class A 6.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00124}.
FT   DOMAIN      274    313       LDL-receptor class A 7.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00124}.
FT   DOMAIN      314    353       EGF-like 1. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00076}.
FT   DOMAIN      354    393       EGF-like 2; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   REPEAT      397    438       LDL-receptor class B 1.
FT   REPEAT      439    485       LDL-receptor class B 2.
FT   REPEAT      486    528       LDL-receptor class B 3.
FT   REPEAT      529    572       LDL-receptor class B 4.
FT   REPEAT      573    615       LDL-receptor class B 5.
FT   REPEAT      616    658       LDL-receptor class B 6.
FT   DOMAIN      663    712       EGF-like 3. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00076}.
FT   REGION      721    768       Clustered O-linked oligosaccharides.
FT   REGION      811    860       Required for MYLIP-triggered down-
FT                                regulation of LDLR.
FT                                {ECO:0000269|PubMed:19520913}.
FT   MOTIF       823    828       NPXY motif.
FT                                {ECO:0000269|PubMed:22509010}.
FT   MOD_RES     724    724       Phosphothreonine.
FT                                {ECO:0000250|UniProtKB:P35952}.
FT   CARBOHYD     97     97       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    156    156       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000269|PubMed:19520913}.
FT   CARBOHYD    272    272       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000269|PubMed:19520913}.
FT   CARBOHYD    515    515       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    657    657       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000269|PubMed:12754519,
FT                                ECO:0000269|PubMed:16335952,
FT                                ECO:0000269|PubMed:19159218}.
FT   DISULFID     27     39
FT   DISULFID     34     52
FT   DISULFID     46     63
FT   DISULFID     68     82
FT   DISULFID     75     95
FT   DISULFID     89    104
FT   DISULFID    109    121       {ECO:0000250}.
FT   DISULFID    116    134
FT   DISULFID    128    143
FT   DISULFID    148    160
FT   DISULFID    155    173
FT   DISULFID    167    184
FT   DISULFID    197    209
FT   DISULFID    204    222
FT   DISULFID    216    231
FT   DISULFID    236    248
FT   DISULFID    243    261
FT   DISULFID    255    270
FT   DISULFID    276    289
FT   DISULFID    284    302
FT   DISULFID    296    313
FT   DISULFID    318    329
FT   DISULFID    325    338
FT   DISULFID    340    352
FT   DISULFID    358    368
FT   DISULFID    364    377
FT   DISULFID    379    392
FT   DISULFID    667    681
FT   DISULFID    677    696
FT   DISULFID    698    711
FT   VAR_SEQ      35    155       Missing (in isoform 6).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_047413.
FT   VAR_SEQ      64    105       LSVTCKSGDFSCGGRVNRCIPQFWRCDGQVDCDNGSDEQGC
FT                                P -> S (in isoform 4).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_043595.
FT   VAR_SEQ     105    272       Missing (in isoform 3).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_055014.
FT   VAR_SEQ     106    232       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_043053.
FT   VAR_SEQ     273    273       V -> L (in isoform 3).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_055015.
FT   VAR_SEQ     663    713       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_043054.
FT   VAR_SEQ     850    851       Missing (in isoform 5).
FT                                {ECO:0000303|Ref.7}.
FT                                /FTId=VSP_045525.
FT   VARIANT       2      2       G -> R (in dbSNP:rs5931).
FT                                {ECO:0000269|PubMed:10391209}.
FT                                /FTId=VAR_011862.
FT   VARIANT      27     27       C -> W (in FH; San Francisco;
FT                                dbSNP:rs2228671).
FT                                {ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005304.
FT   VARIANT      46     46       C -> S (in FH; Japanese patient;
FT                                dbSNP:rs121908041).
FT                                {ECO:0000269|PubMed:11298688}.
FT                                /FTId=VAR_013949.
FT   VARIANT      47     48       Missing (in FH; Cape Town-1; retards
FT                                receptor transport from the endoplasmic
FT                                reticulum to the cell surface).
FT                                {ECO:0000269|PubMed:10882754,
FT                                ECO:0000269|PubMed:3263645}.
FT                                /FTId=VAR_005305.
FT   VARIANT      50     50       A -> S (in FH; German patient;
FT                                dbSNP:rs137853960).
FT                                {ECO:0000269|PubMed:10090484}.
FT                                /FTId=VAR_007979.
FT   VARIANT      50     50       A -> T (in FH; unknown pathological
FT                                significance; dbSNP:rs137853960).
FT                                {ECO:0000269|PubMed:17347910}.
FT                                /FTId=VAR_072827.
FT   VARIANT      52     52       C -> Y (in Paris-4; dbSNP:rs879254418).
FT                                /FTId=VAR_005306.
FT   VARIANT      56     56       S -> P (in FH; dbSNP:rs878854026).
FT                                {ECO:0000269|PubMed:9104431}.
FT                                /FTId=VAR_007980.
FT   VARIANT      78     78       R -> C (in FH; dbSNP:rs370860696).
FT                                {ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005307.
FT   VARIANT      87     87       W -> G (in FH; French Canadian-4;
FT                                dbSNP:rs121908025).
FT                                {ECO:0000269|PubMed:10532689,
FT                                ECO:0000269|PubMed:2318961,
FT                                ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005308.
FT   VARIANT      89     89       C -> Y (in FH; dbSNP:rs875989894).
FT                                {ECO:0000269|PubMed:17142622,
FT                                ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005309.
FT   VARIANT      90     90       D -> G (in FH; London-4;
FT                                dbSNP:rs771019366).
FT                                {ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005310.
FT   VARIANT      90     90       D -> N (in FH; dbSNP:rs749038326).
FT                                {ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005311.
FT   VARIANT      90     90       D -> Y (in FH; Durban-1;
FT                                dbSNP:rs749038326).
FT                                {ECO:0000269|PubMed:8347689}.
FT                                /FTId=VAR_005312.
FT   VARIANT      92     92       Q -> E (in FH; Spanish patient;
FT                                dbSNP:rs774467219).
FT                                {ECO:0000269|PubMed:10206683}.
FT                                /FTId=VAR_005313.
FT   VARIANT      95     95       C -> G (in FH; Spanish patient;
FT                                dbSNP:rs879254456).
FT                                {ECO:0000269|PubMed:10206683}.
FT                                /FTId=VAR_005314.
FT   VARIANT     101    101       E -> K (in FH; Lancashire; 6% of American
FT                                English; dbSNP:rs144172724).
FT                                {ECO:0000269|PubMed:17142622,
FT                                ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005315.
FT   VARIANT     105    105       P -> S (in dbSNP:rs13306510).
FT                                /FTId=VAR_059375.
FT   VARIANT     109    109       C -> R (in Munster-1; dbSNP:rs140807148).
FT                                /FTId=VAR_005316.
FT   VARIANT     116    116       C -> R (in FH; does not affect receptor
FT                                expression at the cell surface; results
FT                                in reduced LDL binding; results in
FT                                reduced LDL uptake and internalization;
FT                                dbSNP:rs879254482).
FT                                {ECO:0000269|PubMed:10206683,
FT                                ECO:0000269|PubMed:25545329}.
FT                                /FTId=VAR_005317.
FT   VARIANT     134    134       C -> F (in FH; dbSNP:rs879254514).
FT                                {ECO:0000269|PubMed:10978268}.
FT                                /FTId=VAR_062371.
FT   VARIANT     134    134       C -> W (in FH; dbSNP:rs879254515).
FT                                {ECO:0000269|PubMed:10978268}.
FT                                /FTId=VAR_062372.
FT   VARIANT     139    139       D -> H (found in a patient with
FT                                hypercholesterolemia; dbSNP:rs879254517).
FT                                {ECO:0000269|PubMed:21418584}.
FT                                /FTId=VAR_065780.
FT   VARIANT     140    140       E -> K (in FH; Philippines/Durban-2/
FT                                Japan; dbSNP:rs748944640).
FT                                {ECO:0000269|PubMed:10532689,
FT                                ECO:0000269|PubMed:7583548,
FT                                ECO:0000269|PubMed:8347689}.
FT                                /FTId=VAR_005318.
FT   VARIANT     143    143       C -> R (in FH; dbSNP:rs875989901).
FT                                {ECO:0000269|PubMed:11462246}.
FT                                /FTId=VAR_072828.
FT   VARIANT     148    148       C -> Y (in FH; dbSNP:rs879254526).
FT                                {ECO:0000269|PubMed:11462246}.
FT                                /FTId=VAR_072829.
FT   VARIANT     155    155       C -> G (in Germany; dbSNP:rs879254535).
FT                                /FTId=VAR_005319.
FT   VARIANT     155    155       C -> Y (in FH; results in defective LDL
FT                                binding; does not affect receptor
FT                                expression at the cell surface;
FT                                dbSNP:rs879254536).
FT                                {ECO:0000269|PubMed:19318025,
FT                                ECO:0000269|PubMed:25378237}.
FT                                /FTId=VAR_072830.
FT   VARIANT     160    160       C -> Y (in FH; unknown pathological
FT                                significance; dbSNP:rs879254541).
FT                                {ECO:0000269|PubMed:24529145,
FT                                ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005320.
FT   VARIANT     168    168       D -> A (in FH; unknown pathological
FT                                significance; dbSNP:rs879254549).
FT                                {ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_072831.
FT   VARIANT     168    168       D -> H (in FH; Sephardic/Safed; 10% of
FT                                the Sephardic Jews; dbSNP:rs200727689).
FT                                {ECO:0000269|PubMed:8462973}.
FT                                /FTId=VAR_005321.
FT   VARIANT     168    168       D -> N (in FH; does not affect receptor
FT                                expression at the cell surface; results
FT                                in reduced LDL binding; results in
FT                                reduced LDL uptake and internalization;
FT                                dbSNP:rs200727689).
FT                                {ECO:0000269|PubMed:25545329,
FT                                ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005322.
FT   VARIANT     168    168       D -> Y (in FH; dbSNP:rs200727689).
FT                                {ECO:0000269|PubMed:8740918}.
FT                                /FTId=VAR_005323.
FT   VARIANT     172    172       D -> H (may contribute to familial
FT                                hypercholesterolemia; dbSNP:rs879254554).
FT                                {ECO:0000269|PubMed:10882754}.
FT                                /FTId=VAR_013950.
FT   VARIANT     172    172       D -> N (in FH; does not affect receptor
FT                                expression at the cell surface; results
FT                                in reduced LDL binding; results in
FT                                reduced LDL uptake and internalization;
FT                                dbSNP:rs879254554).
FT                                {ECO:0000269|PubMed:10532689,
FT                                ECO:0000269|PubMed:25545329}.
FT                                /FTId=VAR_072832.
FT   VARIANT     173    173       C -> R (in Greece-1; dbSNP:rs879254558).
FT                                /FTId=VAR_005324.
FT   VARIANT     173    173       C -> W (in FH; dbSNP:rs769318035).
FT                                {ECO:0000269|PubMed:9452094}.
FT                                /FTId=VAR_005325.
FT   VARIANT     175    175       D -> N (in FH; Afrikaner-3; 5-10% of
FT                                Afrikaners; dbSNP:rs121908033).
FT                                {ECO:0000269|PubMed:2569482}.
FT                                /FTId=VAR_005326.
FT   VARIANT     175    175       D -> Y (in FH; dbSNP:rs121908033).
FT                                {ECO:0000269|PubMed:9104431}.
FT                                /FTId=VAR_007981.
FT   VARIANT     177    177       S -> L (in FH; Puerto Rico;
FT                                dbSNP:rs121908026).
FT                                {ECO:0000269|PubMed:10206683,
FT                                ECO:0000269|PubMed:24529145,
FT                                ECO:0000269|PubMed:9259195,
FT                                ECO:0000269|PubMed:9654205}.
FT                                /FTId=VAR_005327.
FT   VARIANT     184    184       C -> W (in FH; dbSNP:rs879254571).
FT                                {ECO:0000269|PubMed:11462246}.
FT                                /FTId=VAR_072833.
FT   VARIANT     184    184       C -> Y (in FH; Glasco;
FT                                dbSNP:rs121908039).
FT                                {ECO:0000269|PubMed:24529145,
FT                                ECO:0000269|PubMed:9678702}.
FT                                /FTId=VAR_013951.
FT   VARIANT     197    197       C -> F (in Shreveport;
FT                                dbSNP:rs376459828).
FT                                /FTId=VAR_005328.
FT   VARIANT     197    197       C -> R (in FH; British patient;
FT                                dbSNP:rs730882085).
FT                                {ECO:0000269|PubMed:9026534}.
FT                                /FTId=VAR_005330.
FT   VARIANT     197    197       C -> Y (in El Salvador-1;
FT                                dbSNP:rs376459828).
FT                                /FTId=VAR_005329.
FT   VARIANT     201    201       E -> K (found in a patient with
FT                                hypercholesterolemia; dbSNP:rs879254589).
FT                                {ECO:0000269|PubMed:21418584}.
FT                                /FTId=VAR_065781.
FT   VARIANT     211    211       H -> L (in FH; unknown pathological
FT                                significance; dbSNP:rs879254603).
FT                                {ECO:0000269|PubMed:17347910}.
FT                                /FTId=VAR_072834.
FT   VARIANT     218    218       Missing (in FH; Piscataway/Lithuania).
FT                                {ECO:0000269|PubMed:17142622,
FT                                ECO:0000269|PubMed:1867200,
FT                                ECO:0000269|PubMed:9654205}.
FT                                /FTId=VAR_005331.
FT   VARIANT     221    221       D -> G (in FH; Padova;
FT                                dbSNP:rs373822756).
FT                                {ECO:0000269|PubMed:10206683,
FT                                ECO:0000269|PubMed:17142622,
FT                                ECO:0000269|PubMed:17347910,
FT                                ECO:0000269|PubMed:24529145,
FT                                ECO:0000269|PubMed:7649546,
FT                                ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005332.
FT   VARIANT     221    221       D -> N (in FH; German patient;
FT                                dbSNP:rs875989906).
FT                                {ECO:0000269|PubMed:10090484,
FT                                ECO:0000269|PubMed:17142622}.
FT                                /FTId=VAR_007982.
FT   VARIANT     221    221       D -> Y (in FH; Cologne patient;
FT                                dbSNP:rs875989906).
FT                                {ECO:0000269|PubMed:10206683,
FT                                ECO:0000269|PubMed:7649546}.
FT                                /FTId=VAR_005333.
FT   VARIANT     222    222       C -> Y (in FH; dbSNP:rs730882086).
FT                                {ECO:0000269|PubMed:10978268}.
FT                                /FTId=VAR_062373.
FT   VARIANT     224    224       D -> G (in Italy-2; dbSNP:rs879254630).
FT                                /FTId=VAR_005335.
FT   VARIANT     224    224       D -> N (in Portugal; dbSNP:rs387906303).
FT                                /FTId=VAR_005334.
FT   VARIANT     224    224       D -> V (in FH; Cologne patient;
FT                                dbSNP:rs879254630).
FT                                {ECO:0000269|PubMed:7649546}.
FT                                /FTId=VAR_005336.
FT   VARIANT     226    226       S -> P (in Miami-1; dbSNP:rs879254635).
FT                                /FTId=VAR_005337.
FT   VARIANT     227    227       D -> E (in FH; Afrikaner-1/Maine; 65-70%
FT                                of Afrikaner Americans;
FT                                dbSNP:rs121908028).
FT                                {ECO:0000269|PubMed:2569482,
FT                                ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005338.
FT   VARIANT     228    228       E -> CK (in Chieti-3).
FT                                {ECO:0000269|PubMed:10660340}.
FT                                /FTId=VAR_005339.
FT   VARIANT     228    228       E -> K (in FH; French Canadian-3/Mexico;
FT                                2% of French Canadians;
FT                                dbSNP:rs121908029).
FT                                {ECO:0000269|PubMed:2318961,
FT                                ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_005341.
FT   VARIANT     228    228       E -> Q (in FH; Tulsa-2;
FT                                dbSNP:rs121908029).
FT                                {ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_005340.
FT   VARIANT     231    231       C -> G (in FH; Norwegian patient;
FT                                dbSNP:rs746091400).
FT                                {ECO:0000269|PubMed:8664907}.
FT                                /FTId=VAR_005342.
FT   VARIANT     240    240       E -> K (in Charlotte; dbSNP:rs768563000).
FT                                /FTId=VAR_005343.
FT   VARIANT     243    243       C -> R (in FH; unknown pathological
FT                                significance; dbSNP:rs879254659).
FT                                {ECO:0000269|PubMed:10532689}.
FT                                /FTId=VAR_072835.
FT   VARIANT     248    248       C -> F (in Bretagne-1;
FT                                dbSNP:rs879254663).
FT                                /FTId=VAR_005344.
FT   VARIANT     248    248       C -> Y (in FH; British patient;
FT                                dbSNP:rs879254663).
FT                                {ECO:0000269|PubMed:9026534}.
FT                                /FTId=VAR_005345.
FT   VARIANT     253    253       R -> W (may contribute to familial
FT                                hypercholesterolemia; dbSNP:rs150673992).
FT                                {ECO:0000269|PubMed:10882754}.
FT                                /FTId=VAR_013952.
FT   VARIANT     254    254       Q -> P (in FH; dbSNP:rs879254667).
FT                                {ECO:0000269|PubMed:10978268,
FT                                ECO:0000269|PubMed:19319977}.
FT                                /FTId=VAR_062374.
FT   VARIANT     255    255       C -> S (found in a patient with
FT                                hypercholesterolemia; dbSNP:rs879254668).
FT                                {ECO:0000269|PubMed:21418584}.
FT                                /FTId=VAR_065782.
FT   VARIANT     256    256       D -> G (in Nevers; dbSNP:rs879254670).
FT                                /FTId=VAR_005346.
FT   VARIANT     257    257       R -> W (polymorphism; does not affect
FT                                receptor expression at the cell surface;
FT                                does not affect LDL binding; does not
FT                                affect LDL uptake and internalization;
FT                                dbSNP:rs200990725).
FT                                {ECO:0000269|PubMed:11462246,
FT                                ECO:0000269|PubMed:25545329}.
FT                                /FTId=VAR_072836.
FT   VARIANT     261    261       C -> F (in FH; rare mutation; strongly
FT                                reduced receptor activity;
FT                                dbSNP:rs121908040).
FT                                {ECO:0000269|PubMed:10422803}.
FT                                /FTId=VAR_013953.
FT   VARIANT     266    266       D -> E (in FH; Cincinnati-1; unknown
FT                                pathological significance;
FT                                dbSNP:rs139043155).
FT                                {ECO:0000269|PubMed:17347910}.
FT                                /FTId=VAR_005347.
FT   VARIANT     270    270       C -> Y (in Miami-2; dbSNP:rs879254683).
FT                                /FTId=VAR_005348.
FT   VARIANT     276    276       C -> R (in FH; dbSNP:rs879254692).
FT                                {ECO:0000269|PubMed:10978268}.
FT                                /FTId=VAR_062375.
FT   VARIANT     276    276       C -> W (in FH; unknown pathological
FT                                significance; dbSNP:rs146651743).
FT                                {ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_072837.
FT   VARIANT     276    276       C -> Y (in FH; Syrian patient;
FT                                dbSNP:rs730882089). {ECO:0000269|Ref.71}.
FT                                /FTId=VAR_005349.
FT   VARIANT     277    277       E -> K (in FH; patients from Sweden and
FT                                La Havana; unknown pathological
FT                                significance; dbSNP:rs148698650).
FT                                {ECO:0000269|PubMed:10206683,
FT                                ECO:0000269|PubMed:17347910,
FT                                ECO:0000269|PubMed:7635461,
FT                                ECO:0000269|PubMed:7649549}.
FT                                /FTId=VAR_005350.
FT   VARIANT     285    285       H -> Y (in FH; unknown pathological
FT                                significance; dbSNP:rs730882091).
FT                                {ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_072838.
FT   VARIANT     286    286       S -> R (in FH; Greece-2; unknown
FT                                pathological significance;
FT                                dbSNP:rs140241383).
FT                                {ECO:0000269|PubMed:17347910,
FT                                ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005351.
FT   VARIANT     288    288       E -> K (in FH; German patient;
FT                                dbSNP:rs368657165).
FT                                {ECO:0000269|PubMed:10090484}.
FT                                /FTId=VAR_007983.
FT   VARIANT     300    300       R -> G (in FH; does not affect receptor
FT                                expression at the cell surface; results
FT                                in reduced LDL binding; results in
FT                                reduced LDL uptake and internalization;
FT                                dbSNP:rs767618089).
FT                                {ECO:0000269|PubMed:19318025,
FT                                ECO:0000269|PubMed:25545329}.
FT                                /FTId=VAR_072839.
FT   VARIANT     301    301       D -> A (in FH; Greek patient;
FT                                dbSNP:rs879254714).
FT                                {ECO:0000269|PubMed:9026534}.
FT                                /FTId=VAR_005352.
FT   VARIANT     301    301       D -> G (in FH; does not affect receptor
FT                                expression at the cell surface; results
FT                                in reduced LDL binding; results in
FT                                reduced LDL uptake and internalization;
FT                                dbSNP:rs879254714).
FT                                {ECO:0000269|PubMed:19318025,
FT                                ECO:0000269|PubMed:24529145,
FT                                ECO:0000269|PubMed:25545329}.
FT                                /FTId=VAR_072840.
FT   VARIANT     302    302       C -> W (in FH; Iraki patient;
FT                                dbSNP:rs879254716).
FT                                {ECO:0000269|PubMed:9026534}.
FT                                /FTId=VAR_005354.
FT   VARIANT     302    302       C -> Y (in FH; Spanish patient;
FT                                dbSNP:rs879254715).
FT                                {ECO:0000269|PubMed:10206683}.
FT                                /FTId=VAR_005353.
FT   VARIANT     304    304       D -> E (in Baltimore-1;
FT                                dbSNP:rs875989909).
FT                                /FTId=VAR_005356.
FT   VARIANT     304    304       D -> N (in Denver-2; dbSNP:rs121908030).
FT                                {ECO:0000269|PubMed:21418584}.
FT                                /FTId=VAR_005355.
FT   VARIANT     306    306       S -> L (in FH; Amsterdam; unknown
FT                                pathological significance;
FT                                dbSNP:rs11547917).
FT                                {ECO:0000269|PubMed:10532689}.
FT                                /FTId=VAR_005357.
FT   VARIANT     313    313       C -> Y (in FH; dbSNP:rs875989911 and
FT                                dbSNP:rs875989910).
FT                                {ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005358.
FT   VARIANT     314    314       G -> R (in FH; unknown pathological
FT                                significance; dbSNP:rs72658858).
FT                                {ECO:0000269|PubMed:17347910}.
FT                                /FTId=VAR_072841.
FT   VARIANT     318    318       C -> F (in FH; Trieste;
FT                                dbSNP:rs879254739).
FT                                {ECO:0000269|PubMed:24529145,
FT                                ECO:0000269|PubMed:8168830}.
FT                                /FTId=VAR_005360.
FT   VARIANT     318    318       C -> R (in FH; dbSNP:rs879254738).
FT                                {ECO:0000269|PubMed:10978268}.
FT                                /FTId=VAR_062376.
FT   VARIANT     318    318       C -> Y (in Mexico-1; leads to a defect in
FT                                the intracellular transport of the
FT                                receptor; dbSNP:rs879254739).
FT                                /FTId=VAR_005359.
FT   VARIANT     326    326       S -> C (in FH; unknown pathological
FT                                significance; dbSNP:rs879254747).
FT                                {ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_072842.
FT   VARIANT     327    327       H -> Y (in FH; dbSNP:rs747507019).
FT                                {ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005361.
FT   VARIANT     329    329       C -> F (in FH; dbSNP:rs761954844).
FT                                {ECO:0000269|PubMed:22160468}.
FT                                /FTId=VAR_067196.
FT   VARIANT     329    329       C -> Y (in FH; Chinese patient;
FT                                dbSNP:rs761954844).
FT                                {ECO:0000269|PubMed:9452118}.
FT                                /FTId=VAR_005362.
FT   VARIANT     335    335       G -> S (in Paris-6; dbSNP:rs544453230).
FT                                /FTId=VAR_005363.
FT   VARIANT     338    338       C -> S (in FH; Japanese patients;
FT                                dbSNP:rs879254753).
FT                                {ECO:0000269|PubMed:10447263,
FT                                ECO:0000269|PubMed:7583548}.
FT                                /FTId=VAR_005364.
FT   VARIANT     342    342       D -> E (in New York-1;
FT                                dbSNP:rs780563386).
FT                                /FTId=VAR_005365.
FT   VARIANT     342    342       D -> N (in FH; unknown pathological
FT                                significance; dbSNP:rs139361635).
FT                                {ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005366.
FT   VARIANT     343    343       G -> S (in FH; Picardie; unknown
FT                                pathological significance;
FT                                dbSNP:rs730882096).
FT                                {ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_005367.
FT   VARIANT     350    350       R -> P (in FH; dbSNP:rs875989914).
FT                                {ECO:0000269|PubMed:9026534,
FT                                ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005368.
FT   VARIANT     352    352       C -> R (in FH; unknown pathological
FT                                significance; dbSNP:rs879254769).
FT                                {ECO:0000269|PubMed:17347910}.
FT                                /FTId=VAR_072843.
FT   VARIANT     352    352       C -> Y (in Mexico-2; dbSNP:rs193922566).
FT                                /FTId=VAR_005369.
FT   VARIANT     354    354       D -> G (in Munster-2; dbSNP:rs755449669).
FT                                /FTId=VAR_005370.
FT   VARIANT     354    354       D -> V (in Oklahoma; dbSNP:rs755449669).
FT                                /FTId=VAR_005371.
FT   VARIANT     356    356       D -> Y (in FH; dbSNP:rs767767730).
FT                                {ECO:0000269|PubMed:19319977,
FT                                ECO:0000269|PubMed:9104431}.
FT                                /FTId=VAR_007984.
FT   VARIANT     357    357       E -> K (in Paris-7; dbSNP:rs879254781).
FT                                /FTId=VAR_005372.
FT   VARIANT     358    358       C -> Y (in FH; dbSNP:rs875989915).
FT                                {ECO:0000269|PubMed:17142622,
FT                                ECO:0000269|PubMed:19319977}.
FT                                /FTId=VAR_062377.
FT   VARIANT     364    364       C -> R (in Mexico-3; dbSNP:rs879254787).
FT                                /FTId=VAR_005373.
FT   VARIANT     366    366       Q -> R (in FH; dbSNP:rs746982741).
FT                                {ECO:0000269|PubMed:8740918}.
FT                                /FTId=VAR_007985.
FT   VARIANT     368    368       C -> R (in FH; French Canadian patient;
FT                                dbSNP:rs879254791).
FT                                {ECO:0000269|PubMed:9452094}.
FT                                /FTId=VAR_005374.
FT   VARIANT     368    368       C -> Y (in FH; unknown pathological
FT                                significance; dbSNP:rs768430352).
FT                                {ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_072844.
FT   VARIANT     370    370       N -> T (in FH; dbSNP:rs879254792).
FT                                {ECO:0000269|PubMed:10978268}.
FT                                /FTId=VAR_062378.
FT   VARIANT     373    373       G -> D (in FH; unknown pathological
FT                                significance; dbSNP:rs879254797).
FT                                {ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_072845.
FT   VARIANT     379    379       C -> R (in Naples-1; dbSNP:rs879254803).
FT                                /FTId=VAR_005375.
FT   VARIANT     379    379       C -> Y (in FH; dbSNP:rs879254804).
FT                                {ECO:0000269|PubMed:9852677}.
FT                                /FTId=VAR_007986.
FT   VARIANT     391    391       A -> T (in dbSNP:rs11669576).
FT                                /FTId=VAR_024519.
FT   VARIANT     399    399       A -> D (in FH; dbSNP:rs875989918).
FT                                {ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005376.
FT   VARIANT     401    401       L -> H (in Pori; dbSNP:rs121908038).
FT                                {ECO:0000269|PubMed:7573037}.
FT                                /FTId=VAR_005377.
FT   VARIANT     401    401       L -> V (in FH; dbSNP:rs146200173).
FT                                {ECO:0000269|PubMed:9104431}.
FT                                /FTId=VAR_007987.
FT   VARIANT     403    403       F -> L (in FH; Japanese patient;
FT                                dbSNP:rs879254831).
FT                                {ECO:0000269|PubMed:10447263}.
FT                                /FTId=VAR_008995.
FT   VARIANT     404    404       T -> P (in FH; unknown pathological
FT                                significance; dbSNP:rs879254834).
FT                                {ECO:0000269|PubMed:10532689}.
FT                                /FTId=VAR_072846.
FT   VARIANT     406    406       R -> Q (may contribute to familial
FT                                hypercholesterolemia; dbSNP:rs552422789).
FT                                {ECO:0000269|PubMed:10882754}.
FT                                /FTId=VAR_013954.
FT   VARIANT     406    406       R -> W (in FH; unknown pathological
FT                                significance; dbSNP:rs121908043).
FT                                {ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_072847.
FT   VARIANT     408    408       E -> K (in FH; Algeria-1; unknown
FT                                pathological significance;
FT                                dbSNP:rs137943601).
FT                                {ECO:0000269|PubMed:10882754,
FT                                ECO:0000269|PubMed:17347910}.
FT                                /FTId=VAR_005378.
FT   VARIANT     414    414       L -> R (in FH; Chinese patient;
FT                                dbSNP:rs748554592).
FT                                {ECO:0000269|PubMed:9452118}.
FT                                /FTId=VAR_005379.
FT   VARIANT     415    415       D -> G (in FH; dbSNP:rs879254845).
FT                                {ECO:0000269|PubMed:10978268}.
FT                                /FTId=VAR_062379.
FT   VARIANT     416    416       R -> Q (in FH; German patient;
FT                                dbSNP:rs773658037).
FT                                {ECO:0000269|PubMed:9452095}.
FT                                /FTId=VAR_005380.
FT   VARIANT     416    416       R -> W (in FH; results in reduced
FT                                receptor expression at the cell surface
FT                                due to defective receptor recycling;
FT                                dbSNP:rs570942190).
FT                                {ECO:0000269|PubMed:19318025,
FT                                ECO:0000269|PubMed:25378237,
FT                                ECO:0000269|PubMed:9104431,
FT                                ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005381.
FT   VARIANT     423    423       I -> T (in FH; Swedish patient;
FT                                dbSNP:rs879254849).
FT                                {ECO:0000269|PubMed:7635461}.
FT                                /FTId=VAR_005382.
FT   VARIANT     429    429       V -> M (in FH; Afrikaner-2; 20-30% of
FT                                Afrikaners and 2% of FH Dutch;
FT                                dbSNP:rs28942078).
FT                                {ECO:0000269|PubMed:24529145,
FT                                ECO:0000269|PubMed:2569482,
FT                                ECO:0000269|PubMed:7649549,
FT                                ECO:0000269|PubMed:9452095,
FT                                ECO:0000269|PubMed:9452118}.
FT                                /FTId=VAR_005383.
FT   VARIANT     431    431       A -> T (in FH; Algeria-2; unknown
FT                                pathological significance;
FT                                dbSNP:rs28942079).
FT                                {ECO:0000269|PubMed:10447263,
FT                                ECO:0000269|PubMed:17347910}.
FT                                /FTId=VAR_005384.
FT   VARIANT     432    432       L -> V (in FH; German patient;
FT                                dbSNP:rs730882100).
FT                                {ECO:0000269|PubMed:10090484}.
FT                                /FTId=VAR_007988.
FT   VARIANT     433    433       D -> H (in FH; Osaka-3;
FT                                dbSNP:rs121908036).
FT                                {ECO:0000269|PubMed:1446662}.
FT                                /FTId=VAR_005385.
FT   VARIANT     434    434       T -> K (in FH; Algeria-3; unknown
FT                                pathological significance;
FT                                dbSNP:rs745343524).
FT                                {ECO:0000269|PubMed:10206683}.
FT                                /FTId=VAR_005386.
FT   VARIANT     441    441       I -> M (in Rouen; dbSNP:rs5933).
FT                                /FTId=VAR_005388.
FT   VARIANT     441    441       I -> N (in Russia-1; dbSNP:rs879254862).
FT                                /FTId=VAR_005387.
FT   VARIANT     442    442       Y -> H (in FH; unknown pathological
FT                                significance; dbSNP:rs879254863).
FT                                {ECO:0000269|PubMed:17347910}.
FT                                /FTId=VAR_072848.
FT   VARIANT     443    443       W -> C (in North Platt;
FT                                dbSNP:rs879254867).
FT                                /FTId=VAR_005389.
FT   VARIANT     451    451       I -> T (in FH; dbSNP:rs879254874).
FT                                {ECO:0000269|PubMed:10980548,
FT                                ECO:0000269|PubMed:19319977}.
FT                                /FTId=VAR_062380.
FT   VARIANT     454    454       T -> N (in FH; results in reduced
FT                                receptor expression at the cell surface
FT                                due to defective receptor recycling;
FT                                dbSNP:rs879254879).
FT                                {ECO:0000269|PubMed:19318025,
FT                                ECO:0000269|PubMed:25378237}.
FT                                /FTId=VAR_072849.
FT   VARIANT     468    468       V -> I (in dbSNP:rs5932).
FT                                {ECO:0000269|PubMed:10391209}.
FT                                /FTId=VAR_011863.
FT   VARIANT     471    471       R -> G (found in a patient with
FT                                hypercholesterolemia; dbSNP:rs879254891).
FT                                {ECO:0000269|PubMed:21418584}.
FT                                /FTId=VAR_065783.
FT   VARIANT     478    478       G -> R (in New York-2;
FT                                dbSNP:rs144614838).
FT                                /FTId=VAR_005390.
FT   VARIANT     479    479       L -> P (in FH; dbSNP:rs879254900).
FT                                {ECO:0000269|PubMed:17142622}.
FT                                /FTId=VAR_062381.
FT   VARIANT     482    482       D -> H (in FH; dbSNP:rs139624145).
FT                                {ECO:0000269|PubMed:17142622,
FT                                ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005391.
FT   VARIANT     483    483       W -> R (in FH; dbSNP:rs879254905).
FT                                {ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005392.
FT   VARIANT     485    485       H -> R (in Milan; dbSNP:rs879254906).
FT                                /FTId=VAR_005394.
FT   VARIANT     487    487       Missing (in FH; Norwegian patient).
FT                                {ECO:0000269|PubMed:7635482}.
FT                                /FTId=VAR_005393.
FT   VARIANT     492    492       D -> N (in FH; unknown pathological
FT                                significance; dbSNP:rs373646964).
FT                                {ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_072850.
FT   VARIANT     523    523       V -> M (in FH; Kuwait; dbSNP:rs28942080).
FT                                {ECO:0000269|PubMed:17347910}.
FT                                /FTId=VAR_005395.
FT   VARIANT     526    526       P -> S (in FH; Cincinnati-3; unknown
FT                                pathological significance;
FT                                dbSNP:rs730882106).
FT                                {ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005396.
FT   VARIANT     546    546       G -> D (in Saint Omer; retention in the
FT                                ER; dbSNP:rs28942081).
FT                                {ECO:0000269|PubMed:19520913}.
FT                                /FTId=VAR_005397.
FT   VARIANT     549    549       G -> D (in FH; Genoa; dbSNP:rs28941776).
FT                                {ECO:0000269|PubMed:24529145,
FT                                ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005398.
FT   VARIANT     564    564       N -> H (in FH; dbSNP:rs397509365).
FT                                {ECO:0000269|PubMed:10090484,
FT                                ECO:0000269|PubMed:10532689,
FT                                ECO:0000269|PubMed:24529145,
FT                                ECO:0000269|PubMed:7550239,
FT                                ECO:0000269|PubMed:9143924}.
FT                                /FTId=VAR_005399.
FT   VARIANT     564    564       N -> S (in FH; Sicily;
FT                                dbSNP:rs758194385).
FT                                {ECO:0000269|PubMed:9654205}.
FT                                /FTId=VAR_005400.
FT   VARIANT     565    565       G -> V (in Naples-2; dbSNP:rs28942082).
FT                                /FTId=VAR_005401.
FT   VARIANT     568    568       L -> V (in FH; Japanese patient;
FT                                dbSNP:rs746959386).
FT                                {ECO:0000269|PubMed:10447263}.
FT                                /FTId=VAR_008996.
FT   VARIANT     574    574       R -> C (in FH; dbSNP:rs185098634).
FT                                {ECO:0000269|PubMed:11462246}.
FT                                /FTId=VAR_072851.
FT   VARIANT     574    574       R -> H (in FH; unknown pathological
FT                                significance; dbSNP:rs777188764).
FT                                {ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_072852.
FT   VARIANT     577    577       W -> G (in FH; results in loss of
FT                                receptor expression at the cell surface;
FT                                dbSNP:rs879255000).
FT                                {ECO:0000269|PubMed:17347910,
FT                                ECO:0000269|PubMed:25378237}.
FT                                /FTId=VAR_072853.
FT   VARIANT     577    577       W -> S (in FH; unknown pathological
FT                                significance; dbSNP:rs138947766).
FT                                {ECO:0000269|PubMed:10532689}.
FT                                /FTId=VAR_072854.
FT   VARIANT     579    579       D -> N (in FH; Cincinnati-4; less than 2%
FT                                receptor activity; dbSNP:rs875989929).
FT                                {ECO:0000269|PubMed:10532689,
FT                                ECO:0000269|PubMed:7635461}.
FT                                /FTId=VAR_005402.
FT   VARIANT     579    579       D -> Y (in FH; dbSNP:rs875989929).
FT                                {ECO:0000269|PubMed:10978268}.
FT                                /FTId=VAR_062382.
FT   VARIANT     585    585       I -> T (in FH; unknown pathological
FT                                significance; dbSNP:rs879255012).
FT                                {ECO:0000269|PubMed:17347910}.
FT                                /FTId=VAR_072855.
FT   VARIANT     592    592       G -> E (in FH; Sicily;
FT                                dbSNP:rs137929307).
FT                                {ECO:0000269|PubMed:9654205}.
FT                                /FTId=VAR_005403.
FT   VARIANT     595    595       R -> W (in FH; unknown pathological
FT                                significance; dbSNP:rs373371572).
FT                                {ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_072856.
FT   VARIANT     599    599       L -> S (in London-5; dbSNP:rs879255025).
FT                                /FTId=VAR_005404.
FT   VARIANT     601    601       D -> H (in FH; unknown pathological
FT                                significance; dbSNP:rs753707206).
FT                                {ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_072857.
FT   VARIANT     608    608       P -> S (in FH; dbSNP:rs879255034).
FT                                {ECO:0000269|PubMed:9852677}.
FT                                /FTId=VAR_007989.
FT   VARIANT     633    633       R -> C (in FH; dbSNP:rs746118995).
FT                                {ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005405.
FT   VARIANT     639    639       V -> D (in FH; dbSNP:rs794728584).
FT                                {ECO:0000269|PubMed:11462246}.
FT                                /FTId=VAR_072858.
FT   VARIANT     649    649       P -> L (in FH; dbSNP:rs879255081).
FT                                {ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005406.
FT   VARIANT     667    667       C -> Y (in FH; French Canadian-2; 5% of
FT                                French Canadians; dbSNP:rs28942083).
FT                                {ECO:0000269|PubMed:10206683,
FT                                ECO:0000269|PubMed:2318961}.
FT                                /FTId=VAR_005407.
FT   VARIANT     677    677       C -> R (in FH; New York-3;
FT                                dbSNP:rs775092314).
FT                                {ECO:0000269|PubMed:17142622}.
FT                                /FTId=VAR_005408.
FT   VARIANT     682    682       L -> P (in Issoire; dbSNP:rs879255119).
FT                                /FTId=VAR_005409.
FT   VARIANT     685    685       P -> L (in FH; Gujerat/Zambia/Belgian/
FT                                Dutch/Sweden/Japan; dbSNP:rs28942084).
FT                                {ECO:0000269|PubMed:1464748,
FT                                ECO:0000269|PubMed:17142622,
FT                                ECO:0000269|PubMed:17347910,
FT                                ECO:0000269|PubMed:24529145,
FT                                ECO:0000269|PubMed:2726768,
FT                                ECO:0000269|PubMed:7583548,
FT                                ECO:0000269|PubMed:9254862}.
FT                                /FTId=VAR_005410.
FT   VARIANT     699    699       P -> L (in FH; unknown pathological
FT                                significance; dbSNP:rs201573863).
FT                                {ECO:0000269|PubMed:10882754,
FT                                ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_013955.
FT   VARIANT     700    700       D -> E (in FH; Spanish patient;
FT                                dbSNP:rs759858813).
FT                                {ECO:0000269|PubMed:10206683}.
FT                                /FTId=VAR_005412.
FT   VARIANT     714    714       E -> K (in FH; Japanese patient;
FT                                dbSNP:rs869320652).
FT                                {ECO:0000269|PubMed:10447263}.
FT                                /FTId=VAR_008997.
FT   VARIANT     726    726       T -> I (in FH; Paris-9; unknown
FT                                pathological significance;
FT                                dbSNP:rs45508991).
FT                                {ECO:0000269|PubMed:10532689,
FT                                ECO:0000269|PubMed:9259195}.
FT                                /FTId=VAR_005413.
FT   VARIANT     742    742       T -> I (in dbSNP:rs767546791).
FT                                {ECO:0000269|PubMed:11462246}.
FT                                /FTId=VAR_072859.
FT   VARIANT     792    792       I -> F (in Russia-2; dbSNP:rs761123215).
FT                                /FTId=VAR_005414.
FT   VARIANT     797    797       V -> M (in FH; La Havana patient;
FT                                dbSNP:rs750518671).
FT                                {ECO:0000269|PubMed:24529145,
FT                                ECO:0000269|PubMed:7649549}.
FT                                /FTId=VAR_005415.
FT   VARIANT     799    801       Missing (in FH; Danish patient).
FT                                {ECO:0000269|PubMed:9143924}.
FT                                /FTId=VAR_005416.
FT   VARIANT     806    806       V -> D (in FH; unknown pathological
FT                                significance; dbSNP:rs879255208).
FT                                {ECO:0000269|PubMed:11462246}.
FT                                /FTId=VAR_072860.
FT   VARIANT     814    814       R -> Q (in FH; unknown pathological
FT                                significance; dbSNP:rs5928).
FT                                {ECO:0000269|PubMed:10391209,
FT                                ECO:0000269|PubMed:10882754,
FT                                ECO:0000269|PubMed:24529145}.
FT                                /FTId=VAR_011864.
FT   VARIANT     820    822       Missing (in FH).
FT                                /FTId=VAR_005417.
FT   VARIANT     825    825       N -> K (in FH; does not affect receptor
FT                                expression at the cell surface; does not
FT                                affect LDL binding; results in impaired
FT                                LDL uptake and internalization;
FT                                dbSNP:rs374045590).
FT                                {ECO:0000269|PubMed:10532689,
FT                                ECO:0000269|PubMed:25378237}.
FT                                /FTId=VAR_072861.
FT   VARIANT     826    826       P -> S (in FH).
FT                                {ECO:0000269|PubMed:19319977}.
FT                                /FTId=VAR_062383.
FT   VARIANT     827    827       V -> I (in New York-5;
FT                                dbSNP:rs137853964).
FT                                /FTId=VAR_005418.
FT   VARIANT     828    828       Y -> C (in FH; J.D.Bari/Syria; 2-fold
FT                                decreased affinity for LDLRAP1;
FT                                dbSNP:rs28942085).
FT                                {ECO:0000269|PubMed:22509010,
FT                                ECO:0000269|PubMed:3955657}.
FT                                /FTId=VAR_005419.
FT   VARIANT     844    844       G -> D (in Turku; dbSNP:rs121908037).
FT                                {ECO:0000269|PubMed:7573037}.
FT                                /FTId=VAR_005420.
FT   MUTAGEN     811    811       K->R: No change. No change; when
FT                                associated with R-816 and R-830.
FT                                Insensitive to MYLIP-triggered
FT                                degradation; when associated with R-816;
FT                                R-830 and A-839.
FT                                {ECO:0000269|PubMed:19520913}.
FT   MUTAGEN     816    816       K->R: No change. No change; when
FT                                associated with R-830. No change; when
FT                                associated with R-811 and R-830.
FT                                Insensitive to MYLIP-triggered
FT                                degradation; when associated with R-830
FT                                and A-839. Insensitive to MYLIP-triggered
FT                                degradation; when associated with R-811;
FT                                R-830 and A-839.
FT                                {ECO:0000269|PubMed:19520913}.
FT   MUTAGEN     821    821       I->A: 3-fold decreased affinity for
FT                                LDLRAP1. {ECO:0000269|PubMed:22509010}.
FT   MUTAGEN     821    821       I->R: 10-fold decreased affinity for
FT                                LDLRAP1. {ECO:0000269|PubMed:22509010}.
FT   MUTAGEN     828    828       Y->A: Abolishes interaction with ARRB2.
FT                                {ECO:0000269|PubMed:12944399}.
FT   MUTAGEN     829    829       Q->A: Decreased affinity for LDLRAP1.
FT                                {ECO:0000269|PubMed:22509010}.
FT   MUTAGEN     830    830       K->R: No change. No change; when
FT                                associated with R-816. No change; when
FT                                associated with R-811 and R-816.
FT                                Insensitive to MYLIP-triggered
FT                                degradation; when associated with A-839.
FT                                Insensitive to MYLIP-triggered
FT                                degradation; when associated with R-816
FT                                and A-839. Insensitive to MYLIP-triggered
FT                                degradation; when associated with R-811;
FT                                R-816 and A-839.
FT                                {ECO:0000269|PubMed:19520913}.
FT   MUTAGEN     839    839       C->A: No change. Insensitive to MYLIP-
FT                                triggered degradation; when associated
FT                                with R-830. Insensitive to MYLIP-
FT                                triggered degradation; when associated
FT                                with R-816 and R-830. Insensitive to
FT                                MYLIP-triggered degradation; when
FT                                associated with R-811; R-816 and R-830.
FT                                {ECO:0000269|PubMed:19520913}.
FT   MUTAGEN     854    854       S->A: No effect on receptor
FT                                internalization.
FT                                {ECO:0000269|PubMed:12944399}.
FT   MUTAGEN     854    854       S->D: Enhances interaction with ARRB2 and
FT                                receptor internalization.
FT                                {ECO:0000269|PubMed:12944399}.
FT   CONFLICT     31     31       E -> D (in Ref. 4; BAG58495).
FT                                {ECO:0000305}.
FT   STRAND       29     33       {ECO:0000244|PDB:1F5Y}.
FT   STRAND       35     37       {ECO:0000244|PDB:1F5Y}.
FT   STRAND       39     41       {ECO:0000244|PDB:1LDL}.
FT   TURN         42     46       {ECO:0000244|PDB:1F5Y}.
FT   STRAND       47     49       {ECO:0000244|PDB:1F5Y}.
FT   STRAND       51     55       {ECO:0000244|PDB:1F5Y}.
FT   HELIX        56     58       {ECO:0000244|PDB:1F5Y}.
FT   TURN         60     62       {ECO:0000244|PDB:1LDL}.
FT   STRAND       65     67       {ECO:0000244|PDB:5OYL}.
FT   STRAND       70     72       {ECO:0000244|PDB:1LDR}.
FT   STRAND       77     79       {ECO:0000244|PDB:5OYL}.
FT   HELIX        85     87       {ECO:0000244|PDB:5OYL}.
FT   STRAND       90     93       {ECO:0000244|PDB:5OYL}.
FT   STRAND       95     97       {ECO:0000244|PDB:1F5Y}.
FT   HELIX        99    101       {ECO:0000244|PDB:5OYL}.
FT   STRAND      102    104       {ECO:0000244|PDB:5OYL}.
FT   STRAND      113    115       {ECO:0000244|PDB:2FCW}.
FT   STRAND      121    123       {ECO:0000244|PDB:2FCW}.
FT   HELIX       124    126       {ECO:0000244|PDB:2FCW}.
FT   STRAND      129    131       {ECO:0000244|PDB:2FCW}.
FT   TURN        138    142       {ECO:0000244|PDB:2FCW}.
FT   HELIX       143    147       {ECO:0000244|PDB:2FCW}.
FT   STRAND      148    151       {ECO:0000244|PDB:2LGP}.
FT   STRAND      152    154       {ECO:0000244|PDB:2FCW}.
FT   TURN        156    158       {ECO:0000244|PDB:2LGP}.
FT   STRAND      160    162       {ECO:0000244|PDB:2FCW}.
FT   HELIX       163    165       {ECO:0000244|PDB:2FCW}.
FT   STRAND      168    170       {ECO:0000244|PDB:2FCW}.
FT   STRAND      173    176       {ECO:0000244|PDB:2LGP}.
FT   HELIX       177    179       {ECO:0000244|PDB:2FCW}.
FT   HELIX       181    183       {ECO:0000244|PDB:2FCW}.
FT   TURN        189    191       {ECO:0000244|PDB:2LGP}.
FT   STRAND      201    204       {ECO:0000244|PDB:2LGP}.
FT   TURN        205    207       {ECO:0000244|PDB:2LGP}.
FT   STRAND      208    211       {ECO:0000244|PDB:2LGP}.
FT   HELIX       212    214       {ECO:0000244|PDB:1AJJ}.
FT   STRAND      217    219       {ECO:0000244|PDB:1AJJ}.
FT   STRAND      222    224       {ECO:0000244|PDB:2LGP}.
FT   HELIX       226    228       {ECO:0000244|PDB:1AJJ}.
FT   STRAND      241    243       {ECO:0000244|PDB:1D2J}.
FT   TURN        244    246       {ECO:0000244|PDB:1D2J}.
FT   STRAND      247    249       {ECO:0000244|PDB:1D2J}.
FT   HELIX       251    253       {ECO:0000244|PDB:1D2J}.
FT   STRAND      254    258       {ECO:0000244|PDB:1D2J}.
FT   STRAND      260    264       {ECO:0000244|PDB:1D2J}.
FT   HELIX       265    267       {ECO:0000244|PDB:1F8Z}.
FT   STRAND      268    270       {ECO:0000244|PDB:1F8Z}.
FT   STRAND      281    283       {ECO:0000244|PDB:1XFE}.
FT   STRAND      289    292       {ECO:0000244|PDB:1XFE}.
FT   TURN        293    296       {ECO:0000244|PDB:1XFE}.
FT   STRAND      306    308       {ECO:0000244|PDB:1XFE}.
FT   TURN        310    312       {ECO:0000244|PDB:1XFE}.
FT   HELIX       317    319       {ECO:0000244|PDB:2W2N}.
FT   HELIX       321    324       {ECO:0000244|PDB:2W2N}.
FT   STRAND      326    330       {ECO:0000244|PDB:2W2N}.
FT   STRAND      333    335       {ECO:0000244|PDB:2W2N}.
FT   STRAND      337    339       {ECO:0000244|PDB:2W2N}.
FT   STRAND      341    343       {ECO:0000244|PDB:1HZ8}.
FT   STRAND      345    347       {ECO:0000244|PDB:2W2N}.
FT   TURN        348    350       {ECO:0000244|PDB:2W2N}.
FT   STRAND      351    353       {ECO:0000244|PDB:2W2N}.
FT   HELIX       357    359       {ECO:0000244|PDB:1HJ7}.
FT   STRAND      363    369       {ECO:0000244|PDB:1HJ7}.
FT   STRAND      372    374       {ECO:0000244|PDB:3P5B}.
FT   STRAND      376    378       {ECO:0000244|PDB:1HJ7}.
FT   STRAND      381    385       {ECO:0000244|PDB:1HZ8}.
FT   TURN        387    389       {ECO:0000244|PDB:3P5B}.
FT   STRAND      392    394       {ECO:0000244|PDB:1HZ8}.
FT   STRAND      400    404       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      406    413       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      420    423       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      427    435       {ECO:0000244|PDB:1IJQ}.
FT   TURN        436    439       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      440    445       {ECO:0000244|PDB:1IJQ}.
FT   TURN        446    449       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      450    455       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      466    469       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      478    482       {ECO:0000244|PDB:1IJQ}.
FT   TURN        483    486       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      487    492       {ECO:0000244|PDB:1IJQ}.
FT   TURN        493    496       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      497    502       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      505    513       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      519    525       {ECO:0000244|PDB:1IJQ}.
FT   TURN        526    529       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      530    535       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      537    539       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      541    546       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      552    556       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      563    569       {ECO:0000244|PDB:1IJQ}.
FT   TURN        570    573       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      574    579       {ECO:0000244|PDB:1IJQ}.
FT   TURN        580    583       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      584    589       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      596    600       {ECO:0000244|PDB:1IJQ}.
FT   TURN        602    605       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      606    614       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      617    622       {ECO:0000244|PDB:1IJQ}.
FT   TURN        623    626       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      627    632       {ECO:0000244|PDB:1IJQ}.
FT   TURN        633    635       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      640    643       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      652    656       {ECO:0000244|PDB:1IJQ}.
FT   HELIX       657    659       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      668    672       {ECO:0000244|PDB:1IJQ}.
FT   HELIX       673    676       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      678    683       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      693    697       {ECO:0000244|PDB:1IJQ}.
FT   STRAND      708    713       {ECO:0000244|PDB:3P5B}.
FT   STRAND      821    824       {ECO:0000244|PDB:3SO6}.
FT   TURN        826    829       {ECO:0000244|PDB:3SO6}.
SQ   SEQUENCE   860 AA;  95376 MW;  A4C28E9B8BADAD5E CRC64;
     MGPWGWKLRW TVALLLAAAG TAVGDRCERN EFQCQDGKCI SYKWVCDGSA ECQDGSDESQ
     ETCLSVTCKS GDFSCGGRVN RCIPQFWRCD GQVDCDNGSD EQGCPPKTCS QDEFRCHDGK
     CISRQFVCDS DRDCLDGSDE ASCPVLTCGP ASFQCNSSTC IPQLWACDND PDCEDGSDEW
     PQRCRGLYVF QGDSSPCSAF EFHCLSGECI HSSWRCDGGP DCKDKSDEEN CAVATCRPDE
     FQCSDGNCIH GSRQCDREYD CKDMSDEVGC VNVTLCEGPN KFKCHSGECI TLDKVCNMAR
     DCRDWSDEPI KECGTNECLD NNGGCSHVCN DLKIGYECLC PDGFQLVAQR RCEDIDECQD
     PDTCSQLCVN LEGGYKCQCE EGFQLDPHTK ACKAVGSIAY LFFTNRHEVR KMTLDRSEYT
     SLIPNLRNVV ALDTEVASNR IYWSDLSQRM ICSTQLDRAH GVSSYDTVIS RDIQAPDGLA
     VDWIHSNIYW TDSVLGTVSV ADTKGVKRKT LFRENGSKPR AIVVDPVHGF MYWTDWGTPA
     KIKKGGLNGV DIYSLVTENI QWPNGITLDL LSGRLYWVDS KLHSISSIDV NGGNRKTILE
     DEKRLAHPFS LAVFEDKVFW TDIINEAIFS ANRLTGSDVN LLAENLLSPE DMVLFHNLTQ
     PRGVNWCERT TLSNGGCQYL CLPAPQINPH SPKFTCACPD GMLLARDMRS CLTEAEAAVA
     TQETSTVRLK VSSTAVRTQH TTTRPVPDTS RLPGATPGLT TVEIVTMSHQ ALGDVAGRGN
     EKKPSSVRAL SIVLPIVLLV FLCLGVFLLW KNWRLKNINS INFDNPVYQK TTEDEVHICH
     NQDGYSYPSR QMVSLEDDVA
//
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