Results for the protein: P01130

Results for the Protein: P01130

126073

3949

LDLR

NCBI, UniProt

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

122

63

31

1

153

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

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To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

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 ↕
LDLa	smart00192	1.7e-12	67	101
LDLa	smart00192	8.9e-14	108	140
LDLa	smart00192	4.1e-14	147	179
LDLa	smart00192	5.1e-13	196	228
LDLa	smart00192	6.4e-13	235	267
LDLa	smart00192	1.2e-09	275	308
EGF_CA	smart00179	2.1e-06	314	353
EGF	smart00181	4.2e-10	317	353
EGF_CA	pfam07645	2e-09	354	392
EGF_CA	smart00179	4.1e-14	354	393
EGF	smart00181	9.5e-09	357	393
LY	smart00135	4e-12	466	508
LY	smart00135	2.4e-11	509	552
LY	smart00135	7.2e-15	553	595
LY	smart00135	5.1e-06	596	639

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_005376	Disease	p.ALA399ASP	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_007979	Disease	p.ALA50SER	Familial hypercholesterolemia (FH)
dbSNP	rs11669576	Polymorphism	p.ALA391THR	N/A
Swiss-Prot	VAR_005384	Disease	p.ALA431THR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005405	Disease	p.ARG633CYS	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005307	Disease	p.ARG78CYS	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_013954	Polymorphism	p.ARG406GLN	N/A
Swiss-Prot	VAR_005380	Disease	p.ARG416GLN	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_011864	Polymorphism	p.ARG814GLN	N/A
Swiss-Prot	VAR_065783	Polymorphism	p.ARG471GLY	N/A
Swiss-Prot	VAR_005368	Disease	p.ARG350PRO	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_013952	Polymorphism	p.ARG253TRP	N/A
Swiss-Prot	VAR_005381	Disease	p.ARG416TRP	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005399	Disease	p.ASN564HIS	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005400	Disease	p.ASN564SER	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_062378	Disease	p.ASN370THR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005352	Disease	p.ASP301ALA	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005322	Disease	p.ASP168ASN	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005326	Disease	p.ASP175ASN	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_007982	Disease	p.ASP221ASN	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005334	Polymorphism	p.ASP224ASN	N/A
Swiss-Prot	VAR_005355	Polymorphism	p.ASP304ASN	N/A
Swiss-Prot	VAR_005366	Disease	p.ASP342ASN	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005402	Disease	p.ASP579ASN	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005311	Disease	p.ASP90ASN	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005338	Disease	p.ASP227GLU	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005347	Polymorphism	p.ASP266GLU	N/A
Swiss-Prot	VAR_005356	Polymorphism	p.ASP304GLU	N/A
Swiss-Prot	VAR_005365	Polymorphism	p.ASP342GLU	N/A
Swiss-Prot	VAR_005412	Disease	p.ASP700GLU	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005332	Disease	p.ASP221GLY	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005335	Polymorphism	p.ASP224GLY	N/A
Swiss-Prot	VAR_005346	Polymorphism	p.ASP256GLY	N/A
Swiss-Prot	VAR_005370	Polymorphism	p.ASP354GLY	N/A
Swiss-Prot	VAR_062379	Disease	p.ASP415GLY	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005310	Polymorphism	p.ASP90GLY	N/A
Swiss-Prot	VAR_065780	Polymorphism	p.ASP139HIS	N/A
Swiss-Prot	VAR_005321	Disease	p.ASP168HIS	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_013950	Polymorphism	p.ASP172HIS	N/A
Swiss-Prot	VAR_005385	Disease	p.ASP433HIS	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005391	Disease	p.ASP482HIS	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005323	Disease	p.ASP168TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_007981	Disease	p.ASP175TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005333	Disease	p.ASP221TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_007984	Disease	p.ASP356TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_062382	Disease	p.ASP579TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005312	Disease	p.ASP90TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005336	Disease	p.ASP224VAL	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005371	Polymorphism	p.ASP354VAL	N/A
Swiss-Prot	VAR_005316	Polymorphism	p.CYS109ARG	N/A
Swiss-Prot	VAR_005317	Disease	p.CYS116ARG	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005324	Polymorphism	p.CYS173ARG	N/A
Swiss-Prot	VAR_005330	Disease	p.CYS197ARG	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_062375	Disease	p.CYS276ARG	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_062376	Disease	p.CYS318ARG	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005373	Polymorphism	p.CYS364ARG	N/A
Swiss-Prot	VAR_005374	Disease	p.CYS368ARG	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005375	Polymorphism	p.CYS379ARG	N/A
Swiss-Prot	VAR_005408	Disease	p.CYS677ARG	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005319	Polymorphism	p.CYS155GLY	N/A
Swiss-Prot	VAR_005342	Disease	p.CYS231GLY	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005314	Disease	p.CYS95GLY	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_062371	Disease	p.CYS134PHE	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005328	Polymorphism	p.CYS197PHE	N/A
Swiss-Prot	VAR_005344	Polymorphism	p.CYS248PHE	N/A
Swiss-Prot	VAR_013953	Disease	p.CYS261PHE	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005360	Disease	p.CYS318PHE	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_067196	Disease	p.CYS329PHE	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_065782	Polymorphism	p.CYS255SER	N/A
Swiss-Prot	VAR_005364	Disease	p.CYS338SER	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_013949	Disease	p.CYS46SER	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_062372	Disease	p.CYS134TRP	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005325	Disease	p.CYS173TRP	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005304	Polymorphism	p.CYS27TRP	N/A
Swiss-Prot	VAR_005354	Disease	p.CYS302TRP	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005320	Disease	p.CYS160TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_013951	Disease	p.CYS184TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005329	Polymorphism	p.CYS197TYR	N/A
Swiss-Prot	VAR_062373	Disease	p.CYS222TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005345	Disease	p.CYS248TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005348	Polymorphism	p.CYS270TYR	N/A
Swiss-Prot	VAR_005349	Disease	p.CYS276TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005353	Disease	p.CYS302TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005358	Disease	p.CYS313TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005359	Polymorphism	p.CYS318TYR	N/A
Swiss-Prot	VAR_005362	Disease	p.CYS329TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005369	Polymorphism	p.CYS352TYR	N/A
Swiss-Prot	VAR_062377	Disease	p.CYS358TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_007986	Disease	p.CYS379TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005306	Polymorphism	p.CYS52TYR	N/A
Swiss-Prot	VAR_005407	Disease	p.CYS667TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005309	Disease	p.CYS89TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_007985	Disease	p.GLN366ARG	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005313	Disease	p.GLN92GLU	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_062374	Disease	p.GLN254PRO	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005340	Polymorphism	p.GLU228GLN	N/A
Swiss-Prot	VAR_005315	Disease	p.GLU101LYS	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005318	Disease	p.GLU140LYS	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_065781	Polymorphism	p.GLU201LYS	N/A
Swiss-Prot	VAR_005341	Disease	p.GLU228LYS	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005343	Polymorphism	p.GLU240LYS	N/A
Swiss-Prot	VAR_005350	Disease	p.GLU277LYS	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_007983	Disease	p.GLU288LYS	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005372	Polymorphism	p.GLU357LYS	N/A
Swiss-Prot	VAR_005378	Polymorphism	p.GLU408LYS	N/A
Swiss-Prot	VAR_008997	Disease	p.GLU714LYS	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_011862	Polymorphism	p.GLY2ARG	N/A
Swiss-Prot	VAR_005390	Polymorphism	p.GLY478ARG	N/A
Swiss-Prot	VAR_005397	Polymorphism	p.GLY546ASP	N/A
Swiss-Prot	VAR_005398	Polymorphism	p.GLY549ASP	N/A
Swiss-Prot	VAR_005420	Polymorphism	p.GLY844ASP	N/A
Swiss-Prot	VAR_005403	Disease	p.GLY592GLU	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005363	Polymorphism	p.GLY335SER	N/A
Swiss-Prot	VAR_005367	Polymorphism	p.GLY343SER	N/A
Swiss-Prot	VAR_005401	Polymorphism	p.GLY565VAL	N/A
Swiss-Prot	VAR_005394	Polymorphism	p.HIS485ARG	N/A
Swiss-Prot	VAR_005361	Disease	p.HIS327TYR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005387	Polymorphism	p.ILE441ASN	N/A
Swiss-Prot	VAR_005388	Polymorphism	p.ILE441MET	N/A
Swiss-Prot	VAR_005414	Polymorphism	p.ILE792PHE	N/A
Swiss-Prot	VAR_005382	Disease	p.ILE423THR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_062380	Disease	p.ILE451THR	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005379	Disease	p.LEU414ARG	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005377	Polymorphism	p.LEU401HIS	N/A
Swiss-Prot	VAR_062381	Disease	p.LEU479PRO	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005409	Polymorphism	p.LEU682PRO	N/A
Swiss-Prot	VAR_005404	Polymorphism	p.LEU599SER	N/A
Swiss-Prot	VAR_007987	Disease	p.LEU401VAL	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_007988	Disease	p.LEU432VAL	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_008996	Disease	p.LEU568VAL	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_008995	Disease	p.PHE403LEU	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005406	Disease	p.PRO649LEU	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005410	Disease	p.PRO685LEU	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_013955	Polymorphism	p.PRO699LEU	N/A
Swiss-Prot	VAR_059375	Polymorphism	p.PRO105SER	N/A
Swiss-Prot	VAR_005396	Polymorphism	p.PRO526SER	N/A
Swiss-Prot	VAR_007989	Disease	p.PRO608SER	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_062383	Disease	p.PRO826SER	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005351	Polymorphism	p.SER286ARG	N/A
Swiss-Prot	VAR_005327	Disease	p.SER177LEU	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005357	Polymorphism	p.SER306LEU	N/A
Swiss-Prot	VAR_005337	Polymorphism	p.SER226PRO	N/A
Swiss-Prot	VAR_007980	Disease	p.SER56PRO	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005413	Polymorphism	p.THR726ILE	N/A
Swiss-Prot	VAR_005386	Polymorphism	p.THR434LYS	N/A
Swiss-Prot	VAR_005392	Disease	p.TRP483ARG	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005389	Polymorphism	p.TRP443CYS	N/A
Swiss-Prot	VAR_005308	Disease	p.TRP87GLY	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005419	Disease	p.TYR828CYS	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_011863	Polymorphism	p.VAL468ILE	N/A
Swiss-Prot	VAR_005418	Polymorphism	p.VAL827ILE	N/A
Swiss-Prot	VAR_005383	Disease	p.VAL429MET	Familial hypercholesterolemia (FH)
Swiss-Prot	VAR_005395	Polymorphism	p.VAL523MET	N/A
Swiss-Prot	VAR_005415	Disease	p.VAL797MET	Familial hypercholesterolemia (FH)
OMIM	606945.0010	Disease	p.ALA410THR	FH ALGERIA
OMIM	606945.0065	Disease	p.ARG385ARG	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0044	Disease	p.ASP154ASN	FH AFRIKANER 3
OMIM	606945.0022	Disease	p.ASP203ASN	FH PORTUGAL
OMIM	606945.0008	Disease	p.ASP283ASN	FH DENVER 2
OMIM	606945.0006	Disease	p.ASP206GLU	FH AFRIKANER 1\|\|FH MAINE
OMIM	606945.0050	Disease	p.ASP412HIS	FH OSAKA 3
OMIM	606945.0059	Disease	p.CYS240PHE	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0061	Disease	p.CYS25SER	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0062	Disease	p.CYS88SER	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0048	Disease	p.CYS210TER	FH LONDON 3
OMIM	606945.0016	Disease	p.CYS660TER	FH LEBANESE
OMIM	606945.0058	Disease	p.CYS163TYR	FH GLASCO
OMIM	606945.0015	Disease	p.CYS646TYR	FH FRENCH CANADIAN 2
OMIM	606945.0001	Disease	p.GLN12TER	FH TURKEY
OMIM	606945.0007	Disease	p.GLU207LYS	FH MEXICO\|\|FH FRENCH CANADIAN 3
OMIM	606945.0012	Disease	p.GLY525ASP	FH SAINT OMER
OMIM	606945.0013	Disease	p.GLY528ASP	FH GENOA
OMIM	606945.0052	Disease	p.GLY823ASP	FH TURKU
OMIM	606945.0066	Disease	p.GLY186GLY	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0014	Disease	p.GLY544VAL	FH NAPLES
OMIM	606945.0053	Disease	p.LEU380HIS	FH PORI
OMIM	606945.0017	Disease	p.PRO664LEU	FH ZAMBIA
OMIM	606945.0004	Disease	p.SER156LEU	FH PUERTO RICO
OMIM	606945.0003	Disease	p.TRP66GLY	FH FRENCH CANADIAN 4
OMIM	606945.0060	Disease	p.TRP23TER	HYPERCHOLESTEROLEMIA, FAMILIAL
OMIM	606945.0018	Disease	p.TRP792TER	FH BAHRAIN
OMIM	606945.0019	Disease	p.TYR807CYS	FH BARI\|\|FH SYRIA
OMIM	606945.0045	Disease	p.TYR167TER	FH DRUZE
OMIM	606945.0009	Disease	p.VAL408MET	FH AFRIKANER 2
OMIM	606945.0011	Disease	p.VAL502MET	FH KUWAIT

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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