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Results for the Protein: P01130
126073

LDLR_HUMAN RecName: Full=Low-density lipoprotein receptor; Short=LDL receptor; Flags: Precursor

Known Diseases associated with this Protein:
  FAMILIAL HYPERCHOLESTEROLEMIA (FH)
  FH AFRIKANER 1
  FH AFRIKANER 2
  FH AFRIKANER 3
  FH ALGERIA
  FH BAHRAIN
  FH BARI
  FH DENVER 2
  FH DRUZE
  FH FRENCH CANADIAN 2
  FH FRENCH CANADIAN 3
  FH FRENCH CANADIAN 4
  FH GENOA
  FH GLASCO
  FH KUWAIT
  FH LEBANESE
  FH LONDON 3
  FH MAINE
  FH MEXICO
  FH NAPLES
  FH OSAKA 3
  FH PORI
  FH PORTUGAL
  FH PUERTO RICO
  FH SAINT OMER
  FH SYRIA
  FH TURKEY
  FH TURKU
  FH ZAMBIA
  HYPERCHOLESTEROLEMIA, FAMILIAL
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Default View:

LDLa - smart00192
EGF_CA - smart00179
EGF - smart00181
EGF_CA - pfam07645
LY - smart00135


Swiss-Prot Protein: P01130
Identical to: NP_000518
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LDLasmart001921.5e-122658
LDLasmart001921.7e-1267101
LDLasmart001928.9e-14108140
LDLasmart001924.1e-14147179
LDLasmart001925.1e-13196228
LDLasmart001926.4e-13235267
LDLasmart001921.2e-09275308
EGF_CAsmart001792.1e-06314353
EGFsmart001814.2e-10317353
EGF_CApfam076452e-09354392
EGF_CAsmart001794.1e-14354393
EGFsmart001819.5e-09357393
LYsmart001354e-12466508
LYsmart001352.4e-11509552
LYsmart001357.2e-15553595
LYsmart001355.1e-06596639

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_005376Diseasep.ALA399ASPFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_007979Diseasep.ALA50SERFamilial hypercholesterolemia (FH)
dbSNPrs11669576 Polymorphismp.ALA391THRN/A
Swiss-ProtVAR_005384Diseasep.ALA431THRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005405Diseasep.ARG633CYSFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005307Diseasep.ARG78CYSFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_013954Polymorphismp.ARG406GLNN/A
Swiss-ProtVAR_005380Diseasep.ARG416GLNFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_011864Polymorphismp.ARG814GLNN/A
Swiss-ProtVAR_065783Polymorphismp.ARG471GLYN/A
Swiss-ProtVAR_005368Diseasep.ARG350PROFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_013952Polymorphismp.ARG253TRPN/A
Swiss-ProtVAR_005381Diseasep.ARG416TRPFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005399Diseasep.ASN564HISFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005400Diseasep.ASN564SERFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_062378Diseasep.ASN370THRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005352Diseasep.ASP301ALAFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005322Diseasep.ASP168ASNFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005326Diseasep.ASP175ASNFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_007982Diseasep.ASP221ASNFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005334Polymorphismp.ASP224ASNN/A
Swiss-ProtVAR_005355Polymorphismp.ASP304ASNN/A
Swiss-ProtVAR_005366Diseasep.ASP342ASNFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005402Diseasep.ASP579ASNFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005311Diseasep.ASP90ASNFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005338Diseasep.ASP227GLUFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005347Polymorphismp.ASP266GLUN/A
Swiss-ProtVAR_005356Polymorphismp.ASP304GLUN/A
Swiss-ProtVAR_005365Polymorphismp.ASP342GLUN/A
Swiss-ProtVAR_005412Diseasep.ASP700GLUFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005332Diseasep.ASP221GLYFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005335Polymorphismp.ASP224GLYN/A
Swiss-ProtVAR_005346Polymorphismp.ASP256GLYN/A
Swiss-ProtVAR_005370Polymorphismp.ASP354GLYN/A
Swiss-ProtVAR_062379Diseasep.ASP415GLYFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005310Polymorphismp.ASP90GLYN/A
Swiss-ProtVAR_065780Polymorphismp.ASP139HISN/A
Swiss-ProtVAR_005321Diseasep.ASP168HISFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_013950Polymorphismp.ASP172HISN/A
Swiss-ProtVAR_005385Diseasep.ASP433HISFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005391Diseasep.ASP482HISFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005323Diseasep.ASP168TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_007981Diseasep.ASP175TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005333Diseasep.ASP221TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_007984Diseasep.ASP356TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_062382Diseasep.ASP579TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005312Diseasep.ASP90TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005336Diseasep.ASP224VALFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005371Polymorphismp.ASP354VALN/A
Swiss-ProtVAR_005316Polymorphismp.CYS109ARGN/A
Swiss-ProtVAR_005317Diseasep.CYS116ARGFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005324Polymorphismp.CYS173ARGN/A
Swiss-ProtVAR_005330Diseasep.CYS197ARGFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_062375Diseasep.CYS276ARGFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_062376Diseasep.CYS318ARGFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005373Polymorphismp.CYS364ARGN/A
Swiss-ProtVAR_005374Diseasep.CYS368ARGFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005375Polymorphismp.CYS379ARGN/A
Swiss-ProtVAR_005408Diseasep.CYS677ARGFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005319Polymorphismp.CYS155GLYN/A
Swiss-ProtVAR_005342Diseasep.CYS231GLYFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005314Diseasep.CYS95GLYFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_062371Diseasep.CYS134PHEFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005328Polymorphismp.CYS197PHEN/A
Swiss-ProtVAR_005344Polymorphismp.CYS248PHEN/A
Swiss-ProtVAR_013953Diseasep.CYS261PHEFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005360Diseasep.CYS318PHEFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_067196Diseasep.CYS329PHEFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_065782Polymorphismp.CYS255SERN/A
Swiss-ProtVAR_005364Diseasep.CYS338SERFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_013949Diseasep.CYS46SERFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_062372Diseasep.CYS134TRPFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005325Diseasep.CYS173TRPFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005304Polymorphismp.CYS27TRPN/A
Swiss-ProtVAR_005354Diseasep.CYS302TRPFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005320Diseasep.CYS160TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_013951Diseasep.CYS184TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005329Polymorphismp.CYS197TYRN/A
Swiss-ProtVAR_062373Diseasep.CYS222TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005345Diseasep.CYS248TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005348Polymorphismp.CYS270TYRN/A
Swiss-ProtVAR_005349Diseasep.CYS276TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005353Diseasep.CYS302TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005358Diseasep.CYS313TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005359Polymorphismp.CYS318TYRN/A
Swiss-ProtVAR_005362Diseasep.CYS329TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005369Polymorphismp.CYS352TYRN/A
Swiss-ProtVAR_062377Diseasep.CYS358TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_007986Diseasep.CYS379TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005306Polymorphismp.CYS52TYRN/A
Swiss-ProtVAR_005407Diseasep.CYS667TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005309Diseasep.CYS89TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_007985Diseasep.GLN366ARGFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005313Diseasep.GLN92GLUFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_062374Diseasep.GLN254PROFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005340Polymorphismp.GLU228GLNN/A
Swiss-ProtVAR_005315Diseasep.GLU101LYSFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005318Diseasep.GLU140LYSFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_065781Polymorphismp.GLU201LYSN/A
Swiss-ProtVAR_005341Diseasep.GLU228LYSFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005343Polymorphismp.GLU240LYSN/A
Swiss-ProtVAR_005350Diseasep.GLU277LYSFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_007983Diseasep.GLU288LYSFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005372Polymorphismp.GLU357LYSN/A
Swiss-ProtVAR_005378Polymorphismp.GLU408LYSN/A
Swiss-ProtVAR_008997Diseasep.GLU714LYSFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_011862Polymorphismp.GLY2ARGN/A
Swiss-ProtVAR_005390Polymorphismp.GLY478ARGN/A
Swiss-ProtVAR_005397Polymorphismp.GLY546ASPN/A
Swiss-ProtVAR_005398Polymorphismp.GLY549ASPN/A
Swiss-ProtVAR_005420Polymorphismp.GLY844ASPN/A
Swiss-ProtVAR_005403Diseasep.GLY592GLUFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005363Polymorphismp.GLY335SERN/A
Swiss-ProtVAR_005367Polymorphismp.GLY343SERN/A
Swiss-ProtVAR_005401Polymorphismp.GLY565VALN/A
Swiss-ProtVAR_005394Polymorphismp.HIS485ARGN/A
Swiss-ProtVAR_005361Diseasep.HIS327TYRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005387Polymorphismp.ILE441ASNN/A
Swiss-ProtVAR_005388Polymorphismp.ILE441METN/A
Swiss-ProtVAR_005414Polymorphismp.ILE792PHEN/A
Swiss-ProtVAR_005382Diseasep.ILE423THRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_062380Diseasep.ILE451THRFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005379Diseasep.LEU414ARGFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005377Polymorphismp.LEU401HISN/A
Swiss-ProtVAR_062381Diseasep.LEU479PROFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005409Polymorphismp.LEU682PRON/A
Swiss-ProtVAR_005404Polymorphismp.LEU599SERN/A
Swiss-ProtVAR_007987Diseasep.LEU401VALFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_007988Diseasep.LEU432VALFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_008996Diseasep.LEU568VALFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_008995Diseasep.PHE403LEUFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005406Diseasep.PRO649LEUFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005410Diseasep.PRO685LEUFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_013955Polymorphismp.PRO699LEUN/A
Swiss-ProtVAR_059375Polymorphismp.PRO105SERN/A
Swiss-ProtVAR_005396Polymorphismp.PRO526SERN/A
Swiss-ProtVAR_007989Diseasep.PRO608SERFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_062383Diseasep.PRO826SERFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005351Polymorphismp.SER286ARGN/A
Swiss-ProtVAR_005327Diseasep.SER177LEUFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005357Polymorphismp.SER306LEUN/A
Swiss-ProtVAR_005337Polymorphismp.SER226PRON/A
Swiss-ProtVAR_007980Diseasep.SER56PROFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005413Polymorphismp.THR726ILEN/A
Swiss-ProtVAR_005386Polymorphismp.THR434LYSN/A
Swiss-ProtVAR_005392Diseasep.TRP483ARGFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005389Polymorphismp.TRP443CYSN/A
Swiss-ProtVAR_005308Diseasep.TRP87GLYFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005419Diseasep.TYR828CYSFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_011863Polymorphismp.VAL468ILEN/A
Swiss-ProtVAR_005418Polymorphismp.VAL827ILEN/A
Swiss-ProtVAR_005383Diseasep.VAL429METFamilial hypercholesterolemia (FH)
Swiss-ProtVAR_005395Polymorphismp.VAL523METN/A
Swiss-ProtVAR_005415Diseasep.VAL797METFamilial hypercholesterolemia (FH)
OMIM606945.0010 Diseasep.ALA410THRFH ALGERIA
OMIM606945.0065 Diseasep.ARG385ARGHYPERCHOLESTEROLEMIA, FAMILIAL
OMIM606945.0044 Diseasep.ASP154ASNFH AFRIKANER 3
OMIM606945.0022 Diseasep.ASP203ASNFH PORTUGAL
OMIM606945.0008 Diseasep.ASP283ASNFH DENVER 2
OMIM606945.0006 Diseasep.ASP206GLUFH AFRIKANER 1||FH MAINE
OMIM606945.0050 Diseasep.ASP412HISFH OSAKA 3
OMIM606945.0059 Diseasep.CYS240PHEHYPERCHOLESTEROLEMIA, FAMILIAL
OMIM606945.0061 Diseasep.CYS25SERHYPERCHOLESTEROLEMIA, FAMILIAL
OMIM606945.0062 Diseasep.CYS88SERHYPERCHOLESTEROLEMIA, FAMILIAL
OMIM606945.0048 Diseasep.CYS210TERFH LONDON 3
OMIM606945.0016 Diseasep.CYS660TERFH LEBANESE
OMIM606945.0058 Diseasep.CYS163TYRFH GLASCO
OMIM606945.0015 Diseasep.CYS646TYRFH FRENCH CANADIAN 2
OMIM606945.0001 Diseasep.GLN12TERFH TURKEY
OMIM606945.0007 Diseasep.GLU207LYSFH MEXICO||FH FRENCH CANADIAN 3
OMIM606945.0012 Diseasep.GLY525ASPFH SAINT OMER
OMIM606945.0013 Diseasep.GLY528ASPFH GENOA
OMIM606945.0052 Diseasep.GLY823ASPFH TURKU
OMIM606945.0066 Diseasep.GLY186GLYHYPERCHOLESTEROLEMIA, FAMILIAL
OMIM606945.0014 Diseasep.GLY544VALFH NAPLES
OMIM606945.0053 Diseasep.LEU380HISFH PORI
OMIM606945.0017 Diseasep.PRO664LEUFH ZAMBIA
OMIM606945.0004 Diseasep.SER156LEUFH PUERTO RICO
OMIM606945.0003 Diseasep.TRP66GLYFH FRENCH CANADIAN 4
OMIM606945.0060 Diseasep.TRP23TERHYPERCHOLESTEROLEMIA, FAMILIAL
OMIM606945.0018 Diseasep.TRP792TERFH BAHRAIN
OMIM606945.0019 Diseasep.TYR807CYSFH BARI||FH SYRIA
OMIM606945.0045 Diseasep.TYR167TERFH DRUZE
OMIM606945.0009 Diseasep.VAL408METFH AFRIKANER 2
OMIM606945.0011 Diseasep.VAL502METFH KUWAIT



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