The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydro... See more...

Aliases for LDLR Gene

Aliases for LDLR Gene

  • Low Density Lipoprotein Receptor 2 3 5
  • Low-Density Lipoprotein Receptor 3 4
  • LDL Receptor 3 4
  • LDLCQ2 2 3
  • Low-Density Lipoprotein Receptor Class A Domain-Containing Protein 3 3
  • Familial Hypercholesterolemia 2
  • FHCL1 3
  • LDLR 5
  • FHC 3
  • FH 3

External Ids for LDLR Gene

Previous GeneCards Identifiers for LDLR Gene

  • GC19P011331
  • GC19P011045
  • GC19P011061
  • GC19P011200
  • GC19P010777

Summaries for LDLR Gene

Entrez Gene Summary for LDLR Gene

  • The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]

GeneCards Summary for LDLR Gene

LDLR (Low Density Lipoprotein Receptor) is a Protein Coding gene. Diseases associated with LDLR include Hypercholesterolemia, Familial, 1 and Homozygous Familial Hypercholesterolemia. Among its related pathways are Statin Pathway and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include calcium ion binding and low-density lipoprotein particle binding. An important paralog of this gene is VLDLR.

UniProtKB/Swiss-Prot Summary for LDLR Gene

  • Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits.
  • (Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins.
  • (Microbial infection) Acts as a receptor for Vesicular stomatitis virus.
  • (Microbial infection) In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.

Gene Wiki entry for LDLR Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LDLR Gene

Genomics for LDLR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LDLR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LDLR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LDLR

Top Transcription factor binding sites by QIAGEN in the LDLR gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • C/EBPbeta
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for LDLR Gene

Latest Assembly
chr19:11,089,432-11,133,820
(GRCh38/hg38)
Size:
44,389 bases
Orientation:
Plus strand

Previous Assembly
chr19:11,200,139-11,244,496
(GRCh37/hg19 by Entrez Gene)
Size:
44,358 bases
Orientation:
Plus strand

chr19:11,200,038-11,244,492
(GRCh37/hg19 by Ensembl)
Size:
44,455 bases
Orientation:
Plus strand

Genomic View for LDLR Gene

Genes around LDLR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LDLR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LDLR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LDLR Gene

Proteins for LDLR Gene

  • Protein details for LDLR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01130-LDLR_HUMAN
    Recommended name:
    Low-density lipoprotein receptor
    Protein Accession:
    P01130
    Secondary Accessions:
    • B4DII3
    • B4DJZ8
    • B4DR00
    • B4DTQ3
    • C0JYY8
    • H0YLU8
    • H0YNT7
    • Q53ZD9
    • Q59FQ1
    • Q9UDH7

    Protein attributes for LDLR Gene

    Size:
    860 amino acids
    Molecular mass:
    95376 Da
    Quaternary structure:
    • Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif (By similarity). Interacts (via NPXY motif) with LDLRAP1 (via PID domain) (PubMed:12221107, PubMed:22509010). Interacts with ARRB1 (PubMed:12944399). Interacts with SNX17 (PubMed:14739284). Interacts with the full-length immature form of PCSK9 (via C-terminus) (PubMed:17461796, PubMed:21149300).
    • (Microbial infection) Interacts with C.difficile toxin TcdA, suggesting that it may contribute to TcdA toxin entry into cells.
    • (Microbial infection) Interacts with vesicular stomatitis virus glycoprotein.
    • (Microbial infection) May interact with HIV-1 Tat.
    SequenceCaution:
    • Sequence=BAD92646.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LDLR Gene

    Alternative splice isoforms for LDLR Gene

neXtProt entry for LDLR Gene

Post-translational modifications for LDLR Gene

  • N- and O-glycosylated.
  • Ubiquitinated by MYLIP leading to degradation.
  • Glycosylation at Asn156, Asn97, Asn272, Asn515, Asn657, Asn665, Thr721, Ser732, Ser733, Thr724, Thr734, Ser725, Thr726, Thr738, Thr741, Thr742, Thr743, and Ser750
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • LDLR_HUMAN (343)

Antibodies for research

No data available for DME Specific Peptides for LDLR Gene

Domains & Families for LDLR Gene

Gene Families for LDLR Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for LDLR Gene

InterPro:
Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
  • Low density lipoprotein-receptor, class A
  • Low-density lipoprotein receptor, YWTD repeat

Suggested Antigen Peptide Sequences for LDLR Gene

GenScript: Design optimal peptide antigens:
  • LDLR (A2SZX1_HUMAN)
  • cDNA FLJ50552, highly similar to Low-density lipoprotein receptor (B4DJZ8_HUMAN)
  • cDNA FLJ50622, highly similar to Low-density lipoprotein receptor (B4DR00_HUMAN)
  • cDNA FLJ50672, highly similar to Low-density lipoprotein receptor (B4DTQ3_HUMAN)
  • Low density lipoprotein (E1B4S5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P01130

UniProtKB/Swiss-Prot:

LDLR_HUMAN :
  • The NPXY motif mediates the interaction with the clathrin adapter DAB2 and with LDLRAP1 which are involved in receptor internalization. A few residues outside the motif also play a role in the interaction.
  • Belongs to the LDLR family.
Domain:
  • The NPXY motif mediates the interaction with the clathrin adapter DAB2 and with LDLRAP1 which are involved in receptor internalization. A few residues outside the motif also play a role in the interaction.
Family:
  • Belongs to the LDLR family.
genes like me logo Genes that share domains with LDLR: view

Function for LDLR Gene

Molecular function for LDLR Gene

UniProtKB/Swiss-Prot Function:
Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for Vesicular stomatitis virus.
UniProtKB/Swiss-Prot Function:
(Microbial infection) In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.
GENATLAS Biochemistry:
lipoprotein,low density,receptor

Phenotypes From GWAS Catalog for LDLR Gene

Gene Ontology (GO) - Molecular Function for LDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding ISS --
GO:0001618 virus receptor activity IEA --
GO:0002020 protease binding IPI 22081141
GO:0005041 low-density lipoprotein particle receptor activity IMP,TAS 20005821
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with LDLR: view
genes like me logo Genes that share phenotypes with LDLR: view

Human Phenotype Ontology for LDLR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LDLR Gene

MGI Knock Outs for LDLR:
  • Ldlr Ldlr<tm1Her>
  • Ldlr Ldlr<tm1b(EUCOMM)Wtsi>

miRNA for LDLR Gene

miRTarBase miRNAs that target LDLR

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LDLR

Clone products for research

  • Addgene plasmids for LDLR

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LDLR Gene

Localization for LDLR Gene

Subcellular locations from UniProtKB/Swiss-Prot for LDLR Gene

Cell membrane. Single-pass type I membrane protein. Membrane, clathrin-coated pit. Golgi apparatus. Early endosome. Late endosome. Lysosome. Note=Rapidly endocytosed upon ligand binding. {ECO:0000269 PubMed:3104336}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LDLR gene
Compartment Confidence
plasma membrane 5
endosome 5
lysosome 5
golgi apparatus 5
extracellular 4
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
mitochondrion 0

Gene Ontology (GO) - Cellular Components for LDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,IDA 15166224
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA,IDA 15166224
GO:0005770 late endosome IEA,IDA 17461796
GO:0005794 Golgi apparatus IEA,IDA 17461796
genes like me logo Genes that share ontologies with LDLR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LDLR Gene

Pathways & Interactions for LDLR Gene

genes like me logo Genes that share pathways with LDLR: view

Pathways by source for LDLR Gene

3 GeneGo (Thomson Reuters) pathways for LDLR Gene
  • Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
  • Immune response Oncostatin M signaling via MAPK in human cells
  • Transcription Ligand-dependent activation of the ESR1/SP pathway
1 R&D Systems pathway for LDLR Gene
1 Qiagen pathway for LDLR Gene
  • SREBP Proteolysis

SIGNOR curated interactions for LDLR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for LDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 6299582
GO:0006869 lipid transport IEA --
GO:0006897 endocytosis IEA,TAS 12671190
GO:0006898 receptor-mediated endocytosis TAS 24825898
GO:0006909 phagocytosis ISS --
genes like me logo Genes that share ontologies with LDLR: view

Drugs & Compounds for LDLR Gene

(93) Drugs for LDLR Gene - From: DrugBank, PharmGKB, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atorvastatin Approved Pharma 928
Lovastatin Approved, Investigational Pharma HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor 83
Pravastatin Approved Pharma 170
Rosuvastatin Approved Pharma 0
Tocopherol Approved, Investigational Pharma Carrier, binder 562

(45) Additional Compounds for LDLR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Porfimer
  • DHP Ether
  • Dihematoporphyrin ether
  • 3-[14-(1-{1-[14-(3-{1-[10,14-bis(2-carboxyethyl)-5,9,15,19,20-pentamethyl-21,22,23,24-tetraazapentacyclo[16.2.1.1³,⁶.1⁸,¹¹.1¹³,¹⁶]tetracosa-3,5,7,9,11(23),12,14,16,18(21),19-decaen-4-yl]ethoxy}-3-oxopropyl)-10-(2-carboxyethyl)-5,9,15,19,20-pentamethyl-21,22,23,24-tetraazapentacyclo[16.2.1.1³,⁶.1⁸,¹¹.1¹³,¹⁶]tetracosa-3,5,7,9,11(23),12,14,16,18(21),19-decaen-4-yl]ethoxy}ethyl)-20-(2-carboxyethyl)-5,9,10,15,19-pentamethyl-21,22,23,24-tetraazapentacyclo[16.2.1.1³,⁶.1⁸,¹¹.1¹³,¹⁶]tetracosa-1(21),2,4,6,8(23),9,13,15,17,19-decaen-4-yl]propanoate
  • 3-[14-(1-{1-[14-(3-{1-[10,14-bis(2-carboxyethyl)-5,9,15,19,20-pentamethyl-21,22,23,24-tetraazapentacyclo[16.2.1.1,.1,.1,]tetracosa-3,5,7,9,11(23),12,14,16,18(21),19-decaen-4-yl]ethoxy}-3-oxopropyl)-10-(2-carboxyethyl)-5,9,15,19,20-pentamethyl-21,22,23,24-tetraazapentacyclo[16.2.1.1,.1,.1,]tetracosa-3,5,7,9,11(23),12,14,16,18(21),19-decaen-4-yl]ethoxy}ethyl)-20-(2-carboxyethyl)-5,9,10,15,19-pentamethyl-21,22,23,24-tetraazapentacyclo[16.2.1.1,.1,.1,]tetracosa-1(21),2,4,6,8(23),9,13,15,17,19-decaen-4-yl]propanoate
87806-31-3

(1) Tocris Compounds for LDLR Gene

Compound Action Cas Number
COG 133 ApoE peptide fragment 514200-66-9
genes like me logo Genes that share compounds with LDLR: view

Transcripts for LDLR Gene

mRNA/cDNA for LDLR Gene

6 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LDLR

Clone products for research

  • Addgene plasmids for LDLR

Alternative Splicing Database (ASD) splice patterns (SP) for LDLR Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^
SP1: - - - -
SP2: - - - -
SP3: - -
SP4:
SP5: -
SP6:
SP7: - - -
SP8:

ExUns: 18a · 18b · 18c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for LDLR Gene

GeneLoc Exon Structure for
LDLR

Expression for LDLR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LDLR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LDLR Gene

This gene is overexpressed in Adrenal Gland (x4.6).

Protein differential expression in normal tissues from HIPED for LDLR Gene

This gene is overexpressed in Breast (57.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LDLR Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LDLR

SOURCE GeneReport for Unigene cluster for LDLR Gene:

Hs.213289

Evidence on tissue expression from TISSUES for LDLR Gene

  • Nervous system(4.9)
  • Lung(4.5)
  • Liver(4.4)
  • Bone marrow(4.2)
  • Pancreas(3.1)
  • Intestine(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LDLR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • ear
  • eye
  • eyelid
  • face
  • head
Thorax:
  • heart
Abdomen:
  • duodenum
  • intestine
  • liver
  • small intestine
General:
  • blood
  • blood vessel
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with LDLR: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for LDLR Gene

Orthologs for LDLR Gene

This gene was present in the common ancestor of animals.

Orthologs for LDLR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LDLR 29 30
  • 98.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LDLR 29 30
  • 83.29 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LDLR 29 30
  • 82.69 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ldlr 29 16 30
  • 79.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ldlr 29
  • 78.33 (n)
Oppossum
(Monodelphis domestica)
Mammalia LDLR 30
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LDLR 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 13 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia LDLR 30
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100495826 29
  • 66.95 (n)
Str.17411 29
African clawed frog
(Xenopus laevis)
Amphibia LOC397757 29
Zebrafish
(Danio rerio)
Actinopterygii ldlra 29
  • 63 (n)
ldlr 30
  • 53 (a)
OneToMany
LDLR (3 of 3) 30
  • 53 (a)
OneToMany
LDLR (1 of 3) 30
  • 33 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.34 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG4861 31
  • 39 (a)
LpR1 30
  • 31 (a)
ManyToMany
LpR2 30
  • 31 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea T13C2.6 30
  • 32 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 37 (a)
ManyToMany
Species where no ortholog for LDLR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for LDLR Gene

ENSEMBL:
Gene Tree for LDLR (if available)
TreeFam:
Gene Tree for LDLR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LDLR: view image
Alliance of Genome Resources:
Additional Orthologs for LDLR

Paralogs for LDLR Gene

Paralogs for LDLR Gene

(22) SIMAP similar genes for LDLR Gene using alignment to 10 proteins:

  • LDLR_HUMAN
  • A2SZX1_HUMAN
  • E1B4S5_HUMAN
  • E1B4T0_HUMAN
  • E2J5K4_HUMAN
  • H0YM92_HUMAN
  • H0YMD1_HUMAN
  • H0YMQ3_HUMAN
  • J3KMZ9_HUMAN
  • Q9UH51_HUMAN
genes like me logo Genes that share paralogs with LDLR: view

Variants for LDLR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LDLR Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1007707 Uncertain Significance: Familial hypercholesterolemia 11,105,275(+) T/TGCCA
NM_000527.5(LDLR):c.369_370insGCCA (p.Arg124fs)
FRAMESHIFT_VARIANT,INTRON
1008168 Uncertain Significance: Familial hypercholesterolemia 11,120,204(+) TT/CC
NM_000527.5(LDLR):c.1958_1959delinsCC (p.Val653Ala)
MISSENSE
1009215 Uncertain Significance: Familial hypercholesterolemia 11,102,786(+) C/CGT
NM_000527.5(LDLR):c.313+1_313+2dup
SPLICE_DONOR_VARIANT,INTRON
1012924 Likely Benign: not provided 11,113,682(+) T/C
NM_000527.5(LDLR):c.1506T>C (p.Asp502=)
SYNONYMOUS
1012925 Uncertain Significance: not provided 11,116,099(+) T/A
NM_000527.5(LDLR):c.1592T>A (p.Met531Lys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LDLR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LDLR Gene

Variant ID Type Subtype PubMed ID
esv3364262 CNV insertion 20981092
nsv1071910 CNV deletion 25765185
nsv470126 CNV loss 18288195
nsv476545 CNV novel sequence insertion 20440878
nsv833751 CNV loss 17160897

Variation tolerance for LDLR Gene

Residual Variation Intolerance Score: 14.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.13; 69.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LDLR Gene

Human Gene Mutation Database (HGMD)
LDLR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LDLR
Leiden Open Variation Database (LOVD)
LDLR

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LDLR Gene

Disorders for LDLR Gene

MalaCards: The human disease database

(27) MalaCards diseases for LDLR Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD