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Results for the Protein: P04180
125993

LCAT_HUMAN RecName: Full=Phosphatidylcholine-sterol acyltransferase; AltName: Full=Lecithin-cholesterol acyltransferase; AltName: Full=Phospholipid-cholesterol acyltransferase; Flags: Precursor

Known Diseases associated with this Protein:
  FISH-EYE DISEASE
  FISH-EYE DISEASE (FED)
  LCAT DEFICIENCY
  LECITHIN-CHOLESTEROL ACYLTRANSFERASE DEFICIENCY (LCATD)
47
10
14
2
41
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LACT - pfam02450


Swiss-Prot Protein: P04180
Identical to: NP_000220
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LACTpfam024506.4e-18181408

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_004255Diseasep.ALA117THRLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_039029Polymorphismp.ALA165THRN/A
Swiss-ProtVAR_039026Diseasep.ARG123CYSFish-eye disease (FED)
Swiss-ProtVAR_039028Diseasep.ARG164CYSLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_004261Polymorphismp.ARG182CYSN/A
Swiss-ProtVAR_066865Polymorphismp.ARG268CYSN/A
Swiss-ProtVAR_066866Polymorphismp.ARG322CYSN/A
Swiss-ProtVAR_066868Diseasep.ARG347CYSFish-eye disease (FED)
Swiss-ProtVAR_039027Diseasep.ARG159GLNFish-eye disease (FED)
Swiss-ProtVAR_004258Diseasep.ARG164HISLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_039032Diseasep.ARG268HISLecithin-cholesterol acyltransferase deficiency (LCATD)
dbSNPrs201081877 Polymorphismp.ARG386PRON/A
Swiss-ProtVAR_004257Diseasep.ARG159TRPLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_004259Diseasep.ARG171TRPLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_039020Diseasep.ASN29ILELecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_004263Diseasep.ASN252LYSLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_004254Diseasep.GLY57ARGLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_039024Polymorphismp.GLY95ARGN/A
Swiss-ProtVAR_004253Diseasep.GLY54SERLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_039037Polymorphismp.LEU396ARGN/A
Swiss-ProtVAR_066867Diseasep.LEU338PHEFish-eye disease (FED)
Swiss-ProtVAR_004262Diseasep.LEU233PROLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_039031Diseasep.LYS242ASNLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_004265Diseasep.MET317ILELecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_004264Diseasep.MET276LYSFish-eye disease (FED)
Swiss-ProtVAR_039038Diseasep.PHE406VALLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_039021Diseasep.PRO34GLNFish-eye disease (FED)
Swiss-ProtVAR_004252Diseasep.PRO34LEUFish-eye disease (FED)
Swiss-ProtVAR_039035Diseasep.PRO331SERLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_039030Diseasep.SER205ASNLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_039025Polymorphismp.SER115PRON/A
dbSNPrs4986970 Polymorphismp.SER232THRN/A
Swiss-ProtVAR_039033Diseasep.THR298ALALecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_004256Diseasep.THR147ILEFish-eye disease (FED)
Swiss-ProtVAR_039034Diseasep.THR298ILELecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_004266Diseasep.THR345METLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_039022Diseasep.THR37METLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_004267Diseasep.THR371METFish-eye disease (FED)
Swiss-ProtVAR_066862Diseasep.TRP99SERFish-eye disease (FED)
Swiss-ProtVAR_004260Diseasep.TYR180ASNLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_039023Diseasep.VAL70GLUFish-eye disease (FED)
Swiss-ProtVAR_039036Diseasep.VAL333METLecithin-cholesterol acyltransferase deficiency (LCATD)
Swiss-ProtVAR_066864Polymorphismp.VAL246PHEN/A
OMIM606967.0012 Diseasep.ALA93THRLCAT DEFICIENCY
OMIM606967.0012 Diseasep.ARG158CYSLCAT DEFICIENCY
OMIM606967.0013 Diseasep.ARG135TRPLCAT DEFICIENCY
OMIM606967.0018 Diseasep.ASN131ASPFISH-EYE DISEASE
OMIM606967.0004 Diseasep.ASN228LYSLCAT DEFICIENCY
OMIM606967.0005 606967.0008 Diseasep.ILE123THRFISH-EYE DISEASE
OMIM606967.0011 Diseasep.LEU209PROLCAT DEFICIENCY
OMIM606967.0002 Diseasep.MET293ILELCAT DEFICIENCY
OMIM606967.0010 Diseasep.MET252LYSLCAT DEFICIENCY
OMIM606967.0007 Diseasep.PRO10LEUFISH-EYE DISEASE
OMIM606967.0015 Diseasep.THR321METLCAT DEFICIENCY
OMIM606967.0009 Diseasep.THR347METFISH-EYE DISEASE
OMIM606967.0001 Diseasep.TRP147ARGLCAT DEFICIENCY
OMIM606967.0016 Diseasep.TYR83TERLCAT DEFICIENCY



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