Results for the protein: P02649

Results for the Protein: P02649

114039

348

APOE

NCBI, UniProt

APOE_HUMAN RecName: Full=Apolipoprotein E; Short=Apo-E; Flags: Precursor

Known Diseases associated with this Protein:
  APOE KYOTO
  APOE SENDAI
  APOE-SUITA
  APOE2 VARIANT
  APOE2-DUNEDIN
  APOE2-FUKUOKA
  APOE3 VARIANT
  APOE3(-)-FREIBURG
  APOE3(-)-KOCHI
  APOE3-WASHINGTON
  APOE4 VARIANT
  APOE4(+)
  APOE4(-)-FREIBURG
  APOLIPOPROTEINEMIA E1
  DYSBETALIPOPROTEINEMIA DUE TO APOE2
  FAMILIAL DYSBETALIPOPROTEINEMIA
  HYPERCHOLESTEROLEMIA AND HYPERTRIGLYCERIDEMIA, TYPE III
  HYPERLIPOPROTEINEMIA 3 (HLPP3)
  HYPERLIPOPROTEINEMIA, TYPE III
  HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE DEFICIENCY
  HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2
  HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2-FUKUOKA
  HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4
  HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE7
  HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT
  HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE1-HARRISBURG
  HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE2-CHRISTCHURCH
  HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA
  LIPOPROTEIN GLOMERULOPATHY
  LIPOPROTEIN GLOMERULOPATHY (LPG)

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Default View:	Swiss-Prot Protein: P02649 Identical to: NP_000032 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_000663	Polymorphism	p.ALA170PRO	N/A
Swiss-Prot	VAR_000651	Polymorphism	p.ALA117THR	N/A
Swiss-Prot	VAR_016789	Polymorphism	p.ALA124VAL	N/A
Swiss-Prot	VAR_000657	Disease	p.ARG154CYS	Hyperlipoproteinemia 3 (HLPP3)
Swiss-Prot	VAR_000658	Disease	p.ARG160CYS	Hyperlipoproteinemia 3 (HLPP3)
Swiss-Prot	VAR_000659	Disease	p.ARG163CYS	Hyperlipoproteinemia 3 (HLPP3)
dbSNP	rs7412	Disease	p.ARG176CYS	Hyperlipoproteinemia 3 (HLPP3)
Swiss-Prot	VAR_000666	Polymorphism	p.ARG246CYS	N/A
Swiss-Prot	VAR_042734	Disease	p.ARG43CYS	Lipoprotein glomerulopathy (LPG)
Swiss-Prot	VAR_000655	Polymorphism	p.ARG152GLN	N/A
Swiss-Prot	VAR_000665	Polymorphism	p.ARG242GLN	N/A
Swiss-Prot	VAR_000669	Polymorphism	p.ARG269GLY	N/A
Swiss-Prot	VAR_000660	Polymorphism	p.ARG163HIS	N/A
Swiss-Prot	VAR_000671	Polymorphism	p.ARG292HIS	N/A
Swiss-Prot	VAR_042735	Disease	p.ARG163PRO	Lipoprotein glomerulopathy (LPG)
Swiss-Prot	VAR_000656	Disease	p.ARG154SER	Hyperlipoproteinemia 3 (HLPP3)
dbSNP	rs429358	Disease	p.CYS130ARG	Hyperlipoproteinemia 3 (HLPP3)
Swiss-Prot	VAR_014114	Polymorphism	p.GLN64HIS	N/A
Swiss-Prot	VAR_000649	Polymorphism	p.GLN99LYS	N/A
Swiss-Prot	VAR_000645	Polymorphism	p.GLU21LYS	N/A
Swiss-Prot	VAR_000646	Disease	p.GLU31LYS	Hyperlipoproteinemia 3 (HLPP3)
Swiss-Prot	VAR_000653	Polymorphism	p.GLY145ASP	N/A
Swiss-Prot	VAR_000670	Polymorphism	p.LEU270GLU	N/A
Swiss-Prot	VAR_000647	Polymorphism	p.LEU46PRO	N/A
Swiss-Prot	VAR_000661	Disease	p.LYS164GLN	Hyperlipoproteinemia 3 (HLPP3)
Swiss-Prot	VAR_000662	Disease	p.LYS164GLU	Hyperlipoproteinemia 3 (HLPP3)
Swiss-Prot	VAR_000650	Polymorphism	p.PRO102ARG	N/A
Swiss-Prot	VAR_000672	Polymorphism	p.SER314ARG	N/A
Swiss-Prot	VAR_000648	Polymorphism	p.THR60ALA	N/A
Swiss-Prot	VAR_000667	Polymorphism	p.VAL254GLU	N/A
OMIM	107741.0026	Disease	p.ALA152PRO	APOE3 VARIANT
OMIM	107741.0026	Disease	p.ALA99THR	APOE3 VARIANT
OMIM	107741.0008	Disease	p.ARG142CYS	HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT\|\|FAMILIAL DYSBETALIPOPROTEINEMIA
OMIM	107741.0004 107741.0013	Disease	p.ARG145CYS	HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA
OMIM	107741.0009	Disease	p.ARG148CYS	APOLIPOPROTEINEMIA E1
OMIM	107741.0001 107741.0019 107741.0021	Disease	p.ARG158CYS	HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2
OMIM	107741.0012	Disease	p.ARG228CYS	APOE2-DUNEDIN
OMIM	107741.0033	Disease	p.ARG25CYS	LIPOPROTEIN GLOMERULOPATHY\|\|APOE KYOTO
OMIM	107741.0027	Disease	p.ARG134GLN	APOE2 VARIANT
OMIM	107741.0019	Disease	p.ARG224GLN	HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2-FUKUOKA\|\|APOE2-FUKUOKA
OMIM	107741.0022	Disease	p.ARG251GLY	HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4
OMIM	107741.0018	Disease	p.ARG145HIS	HYPERLIPOPROTEINEMIA, TYPE III\|\|APOE3(-)-KOCHI
OMIM	107741.0028	Disease	p.ARG274HIS	APOE4 VARIANT
OMIM	107741.0032	Disease	p.ARG145PRO	LIPOPROTEIN GLOMERULOPATHY\|\|APOE SENDAI
OMIM	107741.0003	Disease	p.ARG136SER	HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE2-CHRISTCHURCH
OMIM	107741.0008 107741.0016 107741.0022 107741.0023 107741.0025	Disease	p.CYS112ARG	APOE4 VARIANT
OMIM	107741.0013 107741.0020	Disease	p.GLU13LYS	HYPERCHOLESTEROLEMIA AND HYPERTRIGLYCERIDEMIA, TYPE III
OMIM	107741.0007	Disease	p.GLU244LYS	HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE7\|\|APOE-SUITA
OMIM	107741.0007	Disease	p.GLU245LYS	HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE7\|\|APOE-SUITA
OMIM	107741.0002 107741.0020	Disease	p.GLU3LYS	HYPERCHOLESTEROLEMIA AND HYPERTRIGLYCERIDEMIA, TYPE III
OMIM	107741.0009	Disease	p.GLY127ASP	APOLIPOPROTEINEMIA E1
OMIM	107741.0023	Disease	p.LEU28PRO	APOE4(-)-FREIBURG
OMIM	107741.0011	Disease	p.LYS146GLN	DYSBETALIPOPROTEINEMIA DUE TO APOE2
OMIM	107741.0010	Disease	p.LYS146GLU	HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE1-HARRISBURG
OMIM	107741.0025	Disease	p.PRO84ARG	APOE4 VARIANT
OMIM	107741.0029	Disease	p.SER296ARG	APOE4(+)
OMIM	107741.0024	Disease	p.THR42ALA	APOE3(-)-FREIBURG
OMIM	107741.0014	Disease	p.TRP210TER	HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE DEFICIENCY\|\|APOE3-WASHINGTON
OMIM	107741.0021	Disease	p.VAL236GLU	HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2

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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