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Results for the Protein: NP_000375
105990532
338

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
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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 ↕
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 ↕
dbSNPrs12713675 Polymorphismp.ALA2456ASPN/A
dbSNPrs1801695 Polymorphismp.ALA4481PRON/A
dbSNPrs61741467 Polymorphismp.ALA1042VALN/A
dbSNPrs679899 Polymorphismp.ALA618VALN/A
dbSNPrs1801701 Polymorphismp.ARG3638GLNN/A
dbSNPrs1801702 Polymorphismp.ARG4270THRN/A
dbSNPrs13306194 Polymorphismp.ARG532TRPN/A
dbSNPrs2163204 Polymorphismp.ASN2785HISN/A
dbSNPrs1042031 Polymorphismp.GLU4181LYSN/A
dbSNPrs533617 Polymorphismp.HIS1923ARGN/A
dbSNPrs12714225 Polymorphismp.ILE408THRN/A
dbSNPrs584542 Polymorphismp.ILE2313VALN/A
dbSNPrs61736761 Polymorphismp.LEU1212METN/A
dbSNPrs676210 Polymorphismp.PRO2739LEUN/A
dbSNPrs6752026 Polymorphismp.PRO145SERN/A
dbSNPrs13306206 Polymorphismp.PRO955SERN/A
dbSNPrs1042034 Polymorphismp.SER4338ASNN/A
dbSNPrs12720855 Polymorphismp.SER3294PRON/A
dbSNPrs61743299 Polymorphismp.SER4233THRN/A
dbSNPrs12714192 Polymorphismp.THR741ASNN/A
dbSNPrs1367117 Polymorphismp.THR98ILEN/A
dbSNPrs13306198 Polymorphismp.THR194METN/A
dbSNPrs12713450 Polymorphismp.THR4484METN/A
dbSNPrs12691202 Polymorphismp.VAL730ILEN/A
dbSNPrs1801703 Polymorphismp.VAL4128METN/A
OMIM107730.0017 Diseasep.ARG3531CYSHYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100
OMIM107730.0009 Diseasep.ARG3500GLNHYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100
OMIM107730.0003 Diseasep.ARG1306TERHYPOBETALIPOPROTEINEMIA, FAMILIAL
OMIM107730.0006 Diseasep.ARG2058TERHYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB46
OMIM107730.0015 Diseasep.ARG2495TERHYPOBETALIPOPROTEINEMIA, FAMILIAL
OMIM107730.0014 Diseasep.GLN1450TERHYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB32
OMIM107730.0013 Diseasep.GLN2252TERHYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC
OMIM107730.0005 Diseasep.GLU4034ARGHYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB90 OR APOB89
OMIM107730.0012 Diseasep.LEU3041TERHYPOBETALIPOPROTEINEMIA, FAMILIAL
OMIM107730.0021 Diseasep.TYR1173TERHYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC
OMIM107730.0004 Diseasep.VAL1829CYSHYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB40



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