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Results for the Protein: P04114
300669605
338

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 ↕
Vitellogenin_Npfam013475.4e-13946598
LPD_Nsmart006383.7e-13446598
DUF1943pfam091721.3e-84632945
DUF1081pfam064481.1e-499581072
ApoB100_Cpfam124914.7e-4044944551

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_020138Polymorphismp.ALA2456ASPN/A
Swiss-ProtVAR_019831Polymorphismp.ALA2365THRN/A
Swiss-ProtVAR_005021Polymorphismp.ALA3121THRN/A
Swiss-ProtVAR_005031Polymorphismp.ALA4481THRN/A
Swiss-ProtVAR_019828Polymorphismp.ALA618VALN/A
Swiss-ProtVAR_005026Diseasep.ARG3558CYSFamilial ligand-defective apolipoprotein B-100 (FDB)
Swiss-ProtVAR_005025Diseasep.ARG3527GLNFamilial ligand-defective apolipoprotein B-100 (FDB)
Swiss-ProtVAR_016186Polymorphismp.ARG3638GLNN/A
Swiss-ProtVAR_022611Polymorphismp.ARG1128HISN/A
Swiss-ProtVAR_029345Polymorphismp.ARG1388HISN/A
Swiss-ProtVAR_016188Polymorphismp.ARG4270THRN/A
Swiss-ProtVAR_022610Diseasep.ARG490TRPHypobetalipoproteinemia, familial, 1 (FHBL1)
Swiss-ProtVAR_022038Polymorphismp.ASN2785HISN/A
Swiss-ProtVAR_005017Polymorphismp.ASN1914SERN/A
Swiss-ProtVAR_029344Polymorphismp.ASP1113HISN/A
Swiss-ProtVAR_029346Polymorphismp.ASP2299HISN/A
Swiss-ProtVAR_005022Polymorphismp.ASP3319HISN/A
Swiss-ProtVAR_019829Polymorphismp.GLN1218GLUN/A
Swiss-ProtVAR_005024Polymorphismp.GLN3432GLUN/A
Swiss-ProtVAR_068911Polymorphismp.GLU1670ASPN/A
Swiss-ProtVAR_005019Polymorphismp.GLU2566LYSN/A
Swiss-ProtVAR_016187Polymorphismp.GLU4181LYSN/A
Swiss-ProtVAR_029343Polymorphismp.GLY1086SERN/A
Swiss-ProtVAR_005018Polymorphismp.HIS1923ARGN/A
Swiss-ProtVAR_029347Polymorphismp.HIS3182ASNN/A
Swiss-ProtVAR_068912Polymorphismp.ILE2037ASNN/A
Swiss-ProtVAR_067279Polymorphismp.ILE3835LEUN/A
Swiss-ProtVAR_019833Polymorphismp.ILE3732THRN/A
Swiss-ProtVAR_029341Polymorphismp.ILE408THRN/A
Swiss-ProtVAR_059582Polymorphismp.ILE2313VALN/A
Swiss-ProtVAR_067280Polymorphismp.ILE4314VALN/A
Swiss-ProtVAR_067281Polymorphismp.ILE4482VALN/A
Swiss-ProtVAR_019832Polymorphismp.LEU2680GLNN/A
Swiss-ProtVAR_019830Polymorphismp.LEU2092VALN/A
Swiss-ProtVAR_019827Polymorphismp.LYS273ASNN/A
Swiss-ProtVAR_035795Polymorphismp.PHE2564CYSN/A
Swiss-ProtVAR_005016Polymorphismp.PHE1437LEUN/A
Swiss-ProtVAR_019834Polymorphismp.PHE3949LEUN/A
Swiss-ProtVAR_005020Polymorphismp.PRO2739LEUN/A
Swiss-ProtVAR_020135Polymorphismp.PRO554LEUN/A
Swiss-ProtVAR_029342Polymorphismp.PRO877LEUN/A
Swiss-ProtVAR_022037Polymorphismp.PRO145SERN/A
Swiss-ProtVAR_056738Polymorphismp.PRO955SERN/A
Swiss-ProtVAR_005030Polymorphismp.SER4338ASNN/A
Swiss-ProtVAR_029348Polymorphismp.SER3279GLYN/A
Swiss-ProtVAR_020139Polymorphismp.SER3294PRON/A
Swiss-ProtVAR_067278Polymorphismp.SER1613THRN/A
Swiss-ProtVAR_029349Polymorphismp.SER3801THRN/A
Swiss-ProtVAR_005028Polymorphismp.THR3945ALAN/A
Swiss-ProtVAR_020137Polymorphismp.THR741ASNN/A
Swiss-ProtVAR_016184Polymorphismp.THR98ILEN/A
Swiss-ProtVAR_005023Polymorphismp.THR3427LYSN/A
Swiss-ProtVAR_056737Polymorphismp.THR194METN/A
Swiss-ProtVAR_020140Polymorphismp.THR4484METN/A
Swiss-ProtVAR_061558Polymorphismp.TYR1422CYSN/A
Swiss-ProtVAR_022036Polymorphismp.TYR103HISN/A
Swiss-ProtVAR_019835Polymorphismp.TYR3964PHEN/A
Swiss-ProtVAR_029350Polymorphismp.VAL4394ALAN/A
Swiss-ProtVAR_005027Polymorphismp.VAL3921ILEN/A
Swiss-ProtVAR_020136Polymorphismp.VAL730ILEN/A
Swiss-ProtVAR_016185Polymorphismp.VAL733ILEN/A
Swiss-ProtVAR_005029Polymorphismp.VAL4128METN/A



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