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Results for the Protein: P06276
116353
590

CHLE_HUMAN RecName: Full=Cholinesterase; AltName: Full=Acylcholine acylhydrolase; AltName: Full=Butyrylcholine esterase; AltName: Full=Choline esterase II; AltName: Full=Pseudocholinesterase; Flags: Precursor

Known Diseases associated with this Protein:
  APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1
  BCHE*243M
  BCHE*390V
  BCHE*70G
  BCHE, DIBUCAINE-RESISTANT I;;
  BCHE, FLUORIDE 1
  BCHE, FLUORIDE 2
  BCHE, FLUORIDE-RESISTANT I;;
  BCHE, FLUORIDE-RESISTANT II;;
  BCHE, H VARIANT
  BCHE, J VARIANT
  BCHE, QUANTITATIVE H VARIANT
  BCHE, QUANTITATIVE J VARIANT
  BUTYRYLCHOLINESTERASE DEFICIENCY
  BUTYRYLCHOLINESTERASE DEFICIENCY (BCHE DEFICIENCY)
  BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE
  CHE*243M;;
  CHE*390V;;
  CHE*70G;;
41
3
9
2
33
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AChE_tetra - pfam08674


Swiss-Prot Protein: P06276
Identical to: NP_000046
   Default View:



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_040032Diseasep.ALA356ASPButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040026Diseasep.ALA229THRButyrylcholinesterase deficiency (BChE deficiency)
dbSNPrs1803274 Polymorphismp.ALA567THRN/A
Swiss-ProtVAR_002364Diseasep.ALA567THRButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040025Diseasep.ALA227VALButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040034Diseasep.ARG414CYSButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040041Diseasep.ARG543CYSButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040017Diseasep.ASN124TYRButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040023Diseasep.ASP198GLUButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_002360Diseasep.ASP98GLYButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040016Diseasep.ASP98HISButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040042Diseasep.GLN546LEUButyrylcholinesterase deficiency (BChE deficiency)
dbSNPrs16849700 Polymorphismp.GLU283ASPN/A
Swiss-ProtVAR_040037Diseasep.GLU488LYSButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040040Diseasep.GLU525VALButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040033Diseasep.GLY393ARGButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040019Diseasep.GLY143ASPButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040035Diseasep.GLY418VALButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_002362Diseasep.LEU358ILEButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040020Diseasep.LEU153PHEButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040031Diseasep.LEU335PROButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040030Diseasep.LYS295ARGButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040013Diseasep.PHE56ILEButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040039Diseasep.PHE502LEUButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040036Diseasep.PHE446SERButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040018Diseasep.PRO128SERButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040015Diseasep.PRO65SERButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040024Diseasep.SER226GLYButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040027Diseasep.THR271METButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040012Diseasep.THR52METButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040028Diseasep.THR278PROButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040038Diseasep.TRP499ARGButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040021Diseasep.TYR156CYSButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040014Diseasep.TYR61CYSButyrylcholinesterase deficiency (BChE deficiency)
Swiss-ProtVAR_040022Diseasep.VAL170METButyrylcholinesterase deficiency (BChE deficiency)
OMIM177400.0005 Polymorphismp.ALA539THRBCHE, K VARIANT||BCHE, QUANTITATIVE K POLYMORPHISM;;||CHE*539T;;||BCHE*539T
OMIM177400.0001 Diseasep.ASP70GLYAPNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1||BCHE, DIBUCAINE-RESISTANT I;;||CHE*70G;;||BCHE*70G
OMIM177400.0006 Diseasep.GLU497VALBCHE, J VARIANT||BCHE, QUANTITATIVE J VARIANT
OMIM177400.0004 Diseasep.GLY390VALBCHE, FLUORIDE 2||BCHE, FLUORIDE-RESISTANT II;;||CHE*390V;;||BCHE*390V
OMIM177400.0012 Diseasep.LEU330ILEBUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE
OMIM177400.0014 Diseasep.LEU335PROBUTYRYLCHOLINESTERASE DEFICIENCY
OMIM177400.0003 Diseasep.THR243METBCHE, FLUORIDE 1||BCHE, FLUORIDE-RESISTANT I;;||CHE*243M;;||BCHE*243M
OMIM177400.0013 Diseasep.TYR128CYSBUTYRYLCHOLINESTERASE DEFICIENCY
OMIM177400.0007 Diseasep.VAL142METBCHE, H VARIANT||BCHE, QUANTITATIVE H VARIANT



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