Low Density Lipoprotein Receptor

Alternative Names

  • LDLR
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OMIM Number

606945

NCBI Gene ID

3949

Uniprot ID

P01130

Length

44,469 bases

No. of Exons

18

No. of isoforms

6

Protein Name

Low-density lipoprotein receptor

Molecular Mass

95376 Da

Amino Acid Count

860

Genomic Location

chr19:11,089,362-11,133,830

Gene Map Locus
19p13.2

Description

Low-density lipoprotein receptor (LDLR) is a cell surface protein essential for the transportation of low-density lipoprotein (LDL). LDLR plays a major role in regulating cholesterol levels in the blood. Dysfunction of these receptors elevates blood cholesterol levels resulting in the abnormal accumulation of cholesterol in the skin, tendons, and arteries, which in turn leads to high risks of contracting cardiovascular diseases.

Molecular Genetics

 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
"Lebanese Allele" NM_000527.4:c.2043C>ALebanon; Palestine; Sy...chr19:11120425Likely Pathogenic, PathogenicLikely Pathogenic, Pathogenic, Uncertain SignificanceHypercholesterolemia, Familial, 1; Hypercholesterolemia, Familial, 4NG_009060.1:g.36045C>A; NM_000527.4:c.2043C>A; NP_000518.1:p.Cys681Ter1219080313699
NM_000527.4:c.*52G>AUnited Arab EmiratesNC_000019.10:g.11131368G>ABenignBenignNG_009060.1:g.46988G>A; NM_000527.4:c.*52G>A; NP_000518.1:p.?14158265910
NM_000527.4:c.1060+10G>CUnited Arab EmiratesNC_000019.10:g.11110781G>CBenignBenignNG_009060.1:g.26401G>C; NM_000527.4:c.1060+10G>C; NP_000518.1:p.?12710260226709
NM_000527.4:c.1171G>ALebanon; United Arab E...NC_000019.10:g.11111624G>ABenignBenign, Likely Benign, Likely Pathogenic, Uncertain SignificanceHypercholesterolemia, Familial, 1; Hypercholesterolemia, Familial, 4NG_009060.1:g.27244G>A; NM_000527.4:c.1171G>A ; NP_000518.1:p.A391T11669576183138
NM_000527.4:c.-120C>TUnited Arab EmiratesNC_000019.10:g.11089429C>TLikely Benign, Likely Pathogenic, Uncertain SignificanceLikely PathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.5049C>T; NM_000527.4:c.-120C>T875989886226299
NM_000527.4:c.1352T>CLebanonchr19:11113443Likely PathogenicLikely PathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.29063T>C; NM_000527.4:c.1352T>C; NP_000518.1:p.Ile451Thr879254874251801
NM_000527.4:c.1359-30C>TUnited Arab EmiratesNC_000019.10:g.11113505C>TBenignBenignNG_009060.1:g.29125C>T; NM_000527.4:c.1359-30C>T; NP_000518.1:p.?1003723251806
NM_000527.4:c.-135C>GUnited Arab EmiratesNC_000019.10:g.11089414C>GLikely Pathogenic, PathogenicLikely PathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.5034C>G; NM_000527.4:c.-135C>G879254375250956
NM_000527.4:c.1617C>TUnited Arab EmiratesNC_000019.10:g.11116124C>TBenignBenignNG_009060.1:g.31744C>T; NM_000527.4:c.1617C>T; NP_000518.1:p.Pro539=5929251936
NM_000527.4:c.1705+56C>TUnited Arab EmiratesNC_000019.10:g.11116268C>TBenign, Likely BenignBenignNG_009060.1:g.31888C>T; NM_000527.4:c.1705+56C>T; NP_000518.1:p.?4508523251983
NM_000527.4:c.1706-2A>TArabchr19:11116857PathogenicPathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.32477A>T; NM_000527.4:c.1706-2A>T; "Arabic Allele"878854027237865
NM_000527.4:c.1959T>CUnited Arab EmiratesNC_000019.10:g.11120205T>CBenign, Likely BenignBenignNG_009060.1:g.35825T>C; NM_000527.4:c.1959T>C; NP_000518.1:p.Val653=5925252131
NM_000527.4:c.1999T>CSyriachr19:11120381Likely Pathogenic, PathogenicPathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.36001T>C; NM_000527.4:c.1999T>C; NP_000518.1:p.Cys667Arg150021927252163
NM_000527.4:c.2027delSaudi Arabiachr19:11120409PathogenicPathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.36029del; NM_000527.4:c.2027del; NP_000518.1:p.Gly676fs875989937226383
NM_000527.4:c.2232A>GUnited Arab EmiratesNC_000019.10:g.11123265A>GBenignBenignNG_009060.1:g.38885A>G; NM_000527.4:c.2232A>G; NP_000518.1:p.Arg744=5927252262
NM_000527.4:c.2389+46C>TUnited Arab EmiratesNC_000019.10:g.11128131C>TBenignBenignNG_009060.1:g.43751C>T; NM_000527.4:c.2389+46C>T; NP_000518.1:p.?2738460265907
NM_000527.4:c.2439G>ABahrainchr19:11129562PathogenicPathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.45182G>A; NM_000527.4:c.2439G>A; NP_000518.1:p.Trp813Ter1219080323703
NM_000527.4:c.2447_2450dupAGAASaudi Arabiachr19:11129570-11129573PathogenicPathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.45190_45193dupAGAA; NM_000527.4:c.2447_2450dupAGAA; NP_000518.1:p.Asn817Lysfs3879063023705
NM_000527.4:c.272delOmanchr19:11102745PathogenicPathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.18365del; NM_000527.4:c.272del; NP_000518.1:p.Gly91fs1568592055623312
NM_000527.4:c.81C>TUnited Arab EmiratesNC_000019.10:g.11100236C>TBenignBenignNG_009060.1:g.15856C>T; NM_000527.4:c.81C>T; NP_000518.1:p.Cys27=2228671251010
NM_000527.4:c.940+36G>AUnited Arab EmiratesNC_000019.10:g.11107550G>ABenignBenignNG_009060.1:g.23170G>A; NM_000527.4:c.940+36G>A; NP_000518.1:p.?13306513523739
NM_000527.4:c.980dupLebanonchr19:11110691PathogenicPathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.26311dup; NM_000527.4:c.980dup ; NP_000518.1:p.His327fs879254748251584
NM_000527.5:c.1066G>TLebanonNC_000019.10:g.11111519G>TLikely Pathogenic, Uncertain SignificancePathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.27139G>T; NM_000527.5:c.1066G>T; NP_000518.1:p.Asp356Tyr767767730226345
NM_000527.5:c.1073G>ALebanonNC_000019.10:g.11111526G>ALikely PathogenicPathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.27146G>A; NM_000527.5:c.1073G>A; NP_000518.1:p.Cys358Tyr875989915226346
NM_000527.5:c.1284C>GUnited Arab EmiratesNC_000019.10:g.11113375C>GLikely Pathogenic, Uncertain SignificanceLikely PathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.28995C>G; NM_000527.5:c.1284C>G; NP_000518.1:p.Asn428Lys368708058251766
NM_000527.5:c.1294C>GUnited Arab EmiratesNC_000019.10:g.11113385C>GLikely Pathogenic, Uncertain SignificanceLikely PathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.29005C>G; NM_000527.5:c.1294C>G; NP_000518.1:p.Leu432Val730882100183111
NM_000527.5:c.1329G>A LebanonNC_000019.10:g.11113420G>APathogenicPathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.29040G>A; NM_000527.5:c.1329G>A ; NP_000518.1:p.Trp443Ter879254867251791
NM_000527.5:c.1352T>GLebanonNC_000019.10:g.11113443T>GPathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.29063T>G; NM_000527.5:c.1352T>G; NP_000518.1:p.Ile451Ser879254874
NM_000527.5:c.1381G>A United Arab EmiratesNC_000019.10:g.11113557G>ALikely Benign, Likely Pathogenic, Uncertain SignificanceLikely PathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.29177G>A; NM_000527.5:c.1381G>A ; NP_001182727.1:p.Gly461Cys19392256836456
NM_000527.5:c.1429G>AUnited Arab EmiratesNC_000019.10:g.11113605G>AUncertain SignificanceLikely PathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.29225G>A; NM_000527.5:c.1429G>A; NP_000518.1:p.Asp477Asn780316072251838
NM_000527.5:c.1477_1479delinsAGAGACATunisiachr19:11113653-11113655PathogenicPathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.29273_29275delinsAGAGACA; NM_000527.5:c.1477_1479delinsAGAGACA; NP_000518.1:p.Ser493fs879254919251866
NM_000527.5:c.1555C>TUnited Arab EmiratesNC_000019.10:g.11113731C>TLikely PathogenicLikely PathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.29351C>T; NM_000527.5:c.1555C>T; NP_000518.1:p.Pro519Ser875989923251896
NM_000527.5:c.1610delUnited Arab EmiratesNC_000019.10:g.11116117delPathogenicLikely PathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.31737del; NM_000527.5:c.1610del; NP_000518.1:p.Gly537GlufsTer11879254959251934
NM_000527.5:c.2177C>TLebanonchr19:11123210Benign, Likely BenignBenign, Likely BenignHypercholesterolemia, Familial, 1NG_009060.1:g.38830C>T; NM_000527.5:c.2177C>T; NP_000518.1:p.Thr726Ile4550899136461
NM_000527.5:c.2476C>TLebanonNC_000019.10:g.11129599C>TPathogenicPathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.45219C>T; NM_000527.5:c.2476C>T; NP_000518.1:p.Pro826Ser879255217440699
NM_000527.5:c.378C>AUnited Arab EmiratesNC_000019.10:g.11105284C>ALikely PathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.20904C>A; NM_000527.5:c.378C>A; NP_000518.1:p.Phe126Leu762139262
NM_000527.5:c.505_511delUnited Arab EmiratesNC_000019.10:g.11105411_11105417delPathogenicLikely PathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.21031_21037del; NM_000527.5:c.505_511del; NP_000518.1:p.Asn169fs1568594903629644
NM_000527.5:c.532G>AUnited Arab EmiratesNC_000019.10:g.11105438G>ALikely PathogenicLikely PathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.21058G>A; NM_000527.5:c.532G>A; NP_000518.1:p.Asp178Asn879254565251283
NM_000527.5:c.728G>AUnited Arab EmiratesNC_000019.10:g.11106598G>ALikely PathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.22218G>A; NM_000527.5:c.728G>A; NP_000518.1:p.Cys243Tyr
NM_000527.5:c.761A>C LebanonNC_000019.10:g.11106631A>CLikely Pathogenic, PathogenicPathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.22251A>C; NM_000527.5:c.761A>C ; NP_000518.1:p.Gln254Pro879254667251437
NM_000527.5:c.979C>TUnited Arab EmiratesNC_000019.10:g.11110690C>TLikely Benign, Likely Pathogenic, Uncertain SignificanceLikely PathogenicHypercholesterolemia, Familial, 1NG_009060.1:g.26310C>T; NM_000527.5:c.979C>T; NP_000518.1:p.His327Tyr747507019251583
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