Results for the protein: P04114

Results for the Protein: P04114

300669605

338

APOB

NCBI, UniProt

APOB_HUMAN RecName: Full=Apolipoprotein B-100; Short=Apo B-100; Contains: RecName: Full=Apolipoprotein B-48; Short=Apo B-48; Flags: Precursor

Known Diseases associated with this Protein:
FAMILIAL LIGAND-DEFECTIVE APOLIPOPROTEIN B-100 (FDB)
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (FHBL1)

3

59

0

0

62

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Default View: LPD_N - smart00638 Vitellogenin_N - pfam01347 DUF1943 - pfam09172 DUF1081 - pfam06448 ApoB100_C - pfam12491	Swiss-Prot Protein: P04114 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 ↕
Swiss-Prot	VAR_020138	Polymorphism	p.ALA2456ASP	N/A
Swiss-Prot	VAR_019831	Polymorphism	p.ALA2365THR	N/A
Swiss-Prot	VAR_005021	Polymorphism	p.ALA3121THR	N/A
Swiss-Prot	VAR_005031	Polymorphism	p.ALA4481THR	N/A
Swiss-Prot	VAR_019828	Polymorphism	p.ALA618VAL	N/A
Swiss-Prot	VAR_005026	Disease	p.ARG3558CYS	Familial ligand-defective apolipoprotein B-100 (FDB)
Swiss-Prot	VAR_005025	Disease	p.ARG3527GLN	Familial ligand-defective apolipoprotein B-100 (FDB)
Swiss-Prot	VAR_016186	Polymorphism	p.ARG3638GLN	N/A
Swiss-Prot	VAR_022611	Polymorphism	p.ARG1128HIS	N/A
Swiss-Prot	VAR_029345	Polymorphism	p.ARG1388HIS	N/A
Swiss-Prot	VAR_016188	Polymorphism	p.ARG4270THR	N/A
Swiss-Prot	VAR_022610	Disease	p.ARG490TRP	Hypobetalipoproteinemia, familial, 1 (FHBL1)
Swiss-Prot	VAR_022038	Polymorphism	p.ASN2785HIS	N/A
Swiss-Prot	VAR_005017	Polymorphism	p.ASN1914SER	N/A
Swiss-Prot	VAR_029344	Polymorphism	p.ASP1113HIS	N/A
Swiss-Prot	VAR_029346	Polymorphism	p.ASP2299HIS	N/A
Swiss-Prot	VAR_005022	Polymorphism	p.ASP3319HIS	N/A
Swiss-Prot	VAR_019829	Polymorphism	p.GLN1218GLU	N/A
Swiss-Prot	VAR_005024	Polymorphism	p.GLN3432GLU	N/A
Swiss-Prot	VAR_068911	Polymorphism	p.GLU1670ASP	N/A
Swiss-Prot	VAR_005019	Polymorphism	p.GLU2566LYS	N/A
Swiss-Prot	VAR_016187	Polymorphism	p.GLU4181LYS	N/A
Swiss-Prot	VAR_029343	Polymorphism	p.GLY1086SER	N/A
Swiss-Prot	VAR_005018	Polymorphism	p.HIS1923ARG	N/A
Swiss-Prot	VAR_029347	Polymorphism	p.HIS3182ASN	N/A
Swiss-Prot	VAR_068912	Polymorphism	p.ILE2037ASN	N/A
Swiss-Prot	VAR_067279	Polymorphism	p.ILE3835LEU	N/A
Swiss-Prot	VAR_019833	Polymorphism	p.ILE3732THR	N/A
Swiss-Prot	VAR_029341	Polymorphism	p.ILE408THR	N/A
Swiss-Prot	VAR_059582	Polymorphism	p.ILE2313VAL	N/A
Swiss-Prot	VAR_067280	Polymorphism	p.ILE4314VAL	N/A
Swiss-Prot	VAR_067281	Polymorphism	p.ILE4482VAL	N/A
Swiss-Prot	VAR_019832	Polymorphism	p.LEU2680GLN	N/A
Swiss-Prot	VAR_019830	Polymorphism	p.LEU2092VAL	N/A
Swiss-Prot	VAR_019827	Polymorphism	p.LYS273ASN	N/A
Swiss-Prot	VAR_035795	Polymorphism	p.PHE2564CYS	N/A
Swiss-Prot	VAR_005016	Polymorphism	p.PHE1437LEU	N/A
Swiss-Prot	VAR_019834	Polymorphism	p.PHE3949LEU	N/A
Swiss-Prot	VAR_005020	Polymorphism	p.PRO2739LEU	N/A
Swiss-Prot	VAR_020135	Polymorphism	p.PRO554LEU	N/A
Swiss-Prot	VAR_029342	Polymorphism	p.PRO877LEU	N/A
Swiss-Prot	VAR_022037	Polymorphism	p.PRO145SER	N/A
Swiss-Prot	VAR_056738	Polymorphism	p.PRO955SER	N/A
Swiss-Prot	VAR_005030	Polymorphism	p.SER4338ASN	N/A
Swiss-Prot	VAR_029348	Polymorphism	p.SER3279GLY	N/A
Swiss-Prot	VAR_020139	Polymorphism	p.SER3294PRO	N/A
Swiss-Prot	VAR_067278	Polymorphism	p.SER1613THR	N/A
Swiss-Prot	VAR_029349	Polymorphism	p.SER3801THR	N/A
Swiss-Prot	VAR_005028	Polymorphism	p.THR3945ALA	N/A
Swiss-Prot	VAR_020137	Polymorphism	p.THR741ASN	N/A
Swiss-Prot	VAR_016184	Polymorphism	p.THR98ILE	N/A
Swiss-Prot	VAR_005023	Polymorphism	p.THR3427LYS	N/A
Swiss-Prot	VAR_056737	Polymorphism	p.THR194MET	N/A
Swiss-Prot	VAR_020140	Polymorphism	p.THR4484MET	N/A
Swiss-Prot	VAR_061558	Polymorphism	p.TYR1422CYS	N/A
Swiss-Prot	VAR_022036	Polymorphism	p.TYR103HIS	N/A
Swiss-Prot	VAR_019835	Polymorphism	p.TYR3964PHE	N/A
Swiss-Prot	VAR_029350	Polymorphism	p.VAL4394ALA	N/A
Swiss-Prot	VAR_005027	Polymorphism	p.VAL3921ILE	N/A
Swiss-Prot	VAR_020136	Polymorphism	p.VAL730ILE	N/A
Swiss-Prot	VAR_016185	Polymorphism	p.VAL733ILE	N/A
Swiss-Prot	VAR_005029	Polymorphism	p.VAL4128MET	N/A

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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