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Results for the Protein: P02647
113992
335

APOA1_HUMAN RecName: Full=Apolipoprotein A-I; Short=Apo-AI; Short=ApoA-I; AltName: Full=Apolipoprotein A1; Contains: RecName: Full=Truncated apolipoprotein A-I; AltName: Full=Apolipoprotein A-I(1-242); Flags: Precursor

Known Diseases associated with this Protein:
  AMYLOID POLYNEUROPATHY-NEPHROPATHY, IOWA TYPE
  AMYLOIDOSIS 8 (AMYL8)
  AMYLOIDOSIS IV, FORMERLY
  AMYLOIDOSIS, CARDIAC AND CUTANEOUS
  AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC
  AMYLOIDOSIS, VAN ALLEN TYPE;;
  APOLIPOPROTEIN A-I (BALTIMORE)
  APOLIPOPROTEIN A-I (GIESSEN)
  APOLIPOPROTEIN A-I (MARBURG)
  APOLIPOPROTEIN A-I (MILANO)
  APOLIPOPROTEIN A-I (MUNSTER3B)
  APOLIPOPROTEIN A-I (MUNSTER3C)
  APOLIPOPROTEIN A-I (MUNSTER4)
  APOLIPOPROTEIN A-I (NORWAY)
  APOLIPOPROTEIN A-I DEFICIENCY
  XANTHELASMAS, PERIORBITAL
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23
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2
23
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Swiss-Prot Protein: P02647
Identical to: NP_000030
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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-ProtVAR_000612Polymorphismp.ALA119ASPN/A
Swiss-ProtVAR_025445Polymorphismp.ALA61THRN/A
Swiss-ProtVAR_000624Polymorphismp.ARG197CYSN/A
Swiss-ProtVAR_000608Polymorphismp.ARG34LEUN/A
dbSNPrs5078 Polymorphismp.ARG184PRON/A
Swiss-ProtVAR_000613Polymorphismp.ASP127ASNN/A
Swiss-ProtVAR_000611Polymorphismp.ASP113GLUN/A
dbSNPrs5077 Polymorphismp.ASP126HISN/A
Swiss-ProtVAR_000619Polymorphismp.GLU163GLYN/A
Swiss-ProtVAR_000617Polymorphismp.GLU134LYSN/A
Swiss-ProtVAR_000618Polymorphismp.GLU160LYSN/A
Swiss-ProtVAR_000625Polymorphismp.GLU222LYSN/A
Swiss-ProtVAR_000622Polymorphismp.GLU171VALN/A
Swiss-ProtVAR_000609Diseasep.GLY50ARGAmyloidosis 8 (AMYL8)
Swiss-ProtVAR_000621Polymorphismp.LEU168ARGN/A
Swiss-ProtVAR_000610Diseasep.LEU84ARGAmyloidosis 8 (AMYL8)
Swiss-ProtVAR_000615Polymorphismp.LYS131METN/A
Swiss-ProtVAR_000620Polymorphismp.PRO167ARGN/A
Swiss-ProtVAR_000623Polymorphismp.PRO189ARGN/A
Swiss-ProtVAR_000606Polymorphismp.PRO27ARGN/A
Swiss-ProtVAR_000607Polymorphismp.PRO28ARGN/A
Swiss-ProtVAR_000605Polymorphismp.PRO27HISN/A
Swiss-ProtVAR_017017Polymorphismp.THR92ILEN/A
Swiss-ProtVAR_000616Polymorphismp.TRP132ARGN/A
Swiss-ProtVAR_021362Polymorphismp.VAL180GLUN/A
OMIM107680.0027 Diseasep.ALA175PROAMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC
OMIM107680.0001 Diseasep.ARG173CYSAPOLIPOPROTEIN A-I (MILANO)
OMIM107680.0013 Diseasep.ARG10LEUAPOLIPOPROTEIN A-I (BALTIMORE)
OMIM107680.0025 Diseasep.ARG173PROAMYLOIDOSIS, CARDIAC AND CUTANEOUS
OMIM107680.0019 Diseasep.GLN32TERXANTHELASMAS, PERIORBITAL
OMIM107680.0015 Diseasep.GLN84TERAPOLIPOPROTEIN A-I DEFICIENCY
OMIM107680.0004 Diseasep.GLU136LYSAPOLIPOPROTEIN A-I (NORWAY)
OMIM107680.0003 Diseasep.GLU198LYSAPOLIPOPROTEIN A-I (MUNSTER4)
OMIM107680.0010 Diseasep.GLY26ARGAMYLOID POLYNEUROPATHY-NEPHROPATHY, IOWA TYPE||AMYLOIDOSIS, VAN ALLEN TYPE;;||AMYLOIDOSIS IV, FORMERLY
OMIM107680.0016 Diseasep.LEU60ARGAMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC
OMIM107680.0024 Diseasep.LEU90PROAMYLOIDOSIS, CARDIAC AND CUTANEOUS
OMIM107680.0026 Diseasep.LEU174SERAMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC
OMIM107680.0002 Diseasep.LYS107TERAPOLIPOPROTEIN A-I (MARBURG)
OMIM107680.0006 Diseasep.PRO143ARGAPOLIPOPROTEIN A-I (GIESSEN)
OMIM107680.0009 Diseasep.PRO165ARGAPOLIPOPROTEIN A-I DEFICIENCY
OMIM107680.0007 Diseasep.PRO3ARGAPOLIPOPROTEIN A-I (MUNSTER3C)
OMIM107680.0008 Diseasep.PRO4ARGAPOLIPOPROTEIN A-I (MUNSTER3B)
OMIM107680.0021 Diseasep.TRP50ARGAMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC
OMIM107680.0022 Diseasep.VAL156GLUAPOLIPOPROTEIN A-I DEFICIENCY



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