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Results for the Protein: P05062
113611
229

ALDOB_HUMAN RecName: Full=Fructose-bisphosphate aldolase B; AltName: Full=Liver-type aldolase

Known Diseases associated with this Protein:
  FRUCTOSE INTOLERANCE
  HEREDITARY FRUCTOSE INTOLERANCE (HFI)
23
4
9
1
17
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Swiss-Prot Protein: P05062
Identical to: NP_000026
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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_000554Diseasep.ALA175ASPHereditary fructose intolerance (HFI)
Swiss-ProtVAR_000553Diseasep.ALA150PROHereditary fructose intolerance (HFI)
Swiss-ProtVAR_000558Diseasep.ALA338VALHereditary fructose intolerance (HFI)
Swiss-ProtVAR_020828Diseasep.ARG304GLNHereditary fructose intolerance (HFI)
Swiss-ProtVAR_038429Polymorphismp.ARG134SERN/A
Swiss-ProtVAR_000556Diseasep.ARG304TRPHereditary fructose intolerance (HFI)
Swiss-ProtVAR_000557Diseasep.ASN335LYSHereditary fructose intolerance (HFI)
Swiss-ProtVAR_000551Diseasep.CYS135ARGHereditary fructose intolerance (HFI)
Swiss-ProtVAR_058211Diseasep.CYS178ARGHereditary fructose intolerance (HFI)
dbSNPrs3739721 Polymorphismp.GLU207GLNN/A
Swiss-ProtVAR_038430Polymorphismp.ILE268ASNN/A
Swiss-ProtVAR_020822Diseasep.ILE74THRHereditary fructose intolerance (HFI)
Swiss-ProtVAR_020827Diseasep.LEU229PROHereditary fructose intolerance (HFI)
Swiss-ProtVAR_000555Diseasep.LEU257PROHereditary fructose intolerance (HFI)
Swiss-ProtVAR_058212Diseasep.LEU284PROHereditary fructose intolerance (HFI)
Swiss-ProtVAR_020824Diseasep.PRO185ARGHereditary fructose intolerance (HFI)
Swiss-ProtVAR_000552Polymorphismp.TRP148ARGN/A
Swiss-ProtVAR_020826Diseasep.VAL222PHEHereditary fructose intolerance (HFI)
OMIM612724.0002 Diseasep.ALA174ASPFRUCTOSE INTOLERANCE
OMIM612724.0001 Diseasep.ALA149PROFRUCTOSE INTOLERANCE
OMIM612724.0008 Diseasep.ARG3TERFRUCTOSE INTOLERANCE
OMIM612724.0009 Diseasep.ARG59TERFRUCTOSE INTOLERANCE
OMIM612724.0014 Diseasep.ARG46TRPFRUCTOSE INTOLERANCE
OMIM612724.0006 Diseasep.ASN334LYSFRUCTOSE INTOLERANCE
OMIM612724.0005 Diseasep.CYS240TERFRUCTOSE INTOLERANCE
OMIM612724.0012 Diseasep.TRP147ARGFRUCTOSE INTOLERANCE
OMIM612724.0015 Diseasep.TYR343HISFRUCTOSE INTOLERANCE



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