Results for the protein: NP

Results for the Protein: NP_000375

105990532

338

APOB

NCBI

apolipoprotein B-100 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100
  HYPOBETALIPOPROTEINEMIA, FAMILIAL
  HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB32
  HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB40
  HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB46
  HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB90 OR APOB89
  HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC

11

25

11

25

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Default View: LPD_N - smart00638 Vitellogenin_N - pfam01347 DUF1943 - pfam09172 DUF1081 - pfam06448 ApoB100_C - pfam12491	RefSeq Protein: NP_000375 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LPD_N	smart00638	3.7e-134	46	598
DUF1943	pfam09172	1.3e-84	632	945
DUF1081	pfam06448	1.1e-49	958	1072
ApoB100_C	pfam12491	4.7e-40	4494	4551

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs12713675	Polymorphism	p.ALA2456ASP	N/A
dbSNP	rs1801695	Polymorphism	p.ALA4481PRO	N/A
dbSNP	rs61741467	Polymorphism	p.ALA1042VAL	N/A
dbSNP	rs679899	Polymorphism	p.ALA618VAL	N/A
dbSNP	rs1801701	Polymorphism	p.ARG3638GLN	N/A
dbSNP	rs1801702	Polymorphism	p.ARG4270THR	N/A
dbSNP	rs13306194	Polymorphism	p.ARG532TRP	N/A
dbSNP	rs2163204	Polymorphism	p.ASN2785HIS	N/A
dbSNP	rs1042031	Polymorphism	p.GLU4181LYS	N/A
dbSNP	rs533617	Polymorphism	p.HIS1923ARG	N/A
dbSNP	rs12714225	Polymorphism	p.ILE408THR	N/A
dbSNP	rs584542	Polymorphism	p.ILE2313VAL	N/A
dbSNP	rs61736761	Polymorphism	p.LEU1212MET	N/A
dbSNP	rs676210	Polymorphism	p.PRO2739LEU	N/A
dbSNP	rs6752026	Polymorphism	p.PRO145SER	N/A
dbSNP	rs13306206	Polymorphism	p.PRO955SER	N/A
dbSNP	rs1042034	Polymorphism	p.SER4338ASN	N/A
dbSNP	rs12720855	Polymorphism	p.SER3294PRO	N/A
dbSNP	rs61743299	Polymorphism	p.SER4233THR	N/A
dbSNP	rs12714192	Polymorphism	p.THR741ASN	N/A
dbSNP	rs1367117	Polymorphism	p.THR98ILE	N/A
dbSNP	rs13306198	Polymorphism	p.THR194MET	N/A
dbSNP	rs12713450	Polymorphism	p.THR4484MET	N/A
dbSNP	rs12691202	Polymorphism	p.VAL730ILE	N/A
dbSNP	rs1801703	Polymorphism	p.VAL4128MET	N/A
OMIM	107730.0017	Disease	p.ARG3531CYS	HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100
OMIM	107730.0009	Disease	p.ARG3500GLN	HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100
OMIM	107730.0003	Disease	p.ARG1306TER	HYPOBETALIPOPROTEINEMIA, FAMILIAL
OMIM	107730.0006	Disease	p.ARG2058TER	HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB46
OMIM	107730.0015	Disease	p.ARG2495TER	HYPOBETALIPOPROTEINEMIA, FAMILIAL
OMIM	107730.0014	Disease	p.GLN1450TER	HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB32
OMIM	107730.0013	Disease	p.GLN2252TER	HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC
OMIM	107730.0005	Disease	p.GLU4034ARG	HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB90 OR APOB89
OMIM	107730.0012	Disease	p.LEU3041TER	HYPOBETALIPOPROTEINEMIA, FAMILIAL
OMIM	107730.0021	Disease	p.TYR1173TER	HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC
OMIM	107730.0004	Disease	p.VAL1829CYS	HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB40

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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