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Results for the Protein: P07902
3183522

GALT_HUMAN RecName: Full=Galactose-1-phosphate uridylyltransferase; Short=Gal-1-P uridylyltransferase; AltName: Full=UDP-glucose--hexose-1-phosphate uridylyltransferase

Known Diseases associated with this Protein:
  GALACTOSEMIA
  GALACTOSEMIA (GALCT)
137
3
13
2
125
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Swiss-Prot Protein: P07902
Identical to: NP_000146
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068555Diseasep.ALA345ASPGalactosemia (GALCT)
Swiss-ProtVAR_002593Diseasep.ALA199THRGalactosemia (GALCT)
Swiss-ProtVAR_002617Diseasep.ALA320THRGalactosemia (GALCT)
Swiss-ProtVAR_002558Diseasep.ALA81THRGalactosemia (GALCT)
Swiss-ProtVAR_002624Diseasep.ALA330VALGalactosemia (GALCT)
Swiss-ProtVAR_068544Diseasep.ARG201CYSGalactosemia (GALCT)
Swiss-ProtVAR_002605Diseasep.ARG258CYSGalactosemia (GALCT)
Swiss-ProtVAR_002556Diseasep.ARG67CYSGalactosemia (GALCT)
Swiss-ProtVAR_002566Diseasep.ARG123GLNGalactosemia (GALCT)
Swiss-ProtVAR_002578Diseasep.ARG148GLNGalactosemia (GALCT)
Swiss-ProtVAR_068548Diseasep.ARG259GLNGalactosemia (GALCT)
Swiss-ProtVAR_002626Diseasep.ARG333GLNGalactosemia (GALCT)
Swiss-ProtVAR_023328Diseasep.ARG51GLNGalactosemia (GALCT)
Swiss-ProtVAR_002565Diseasep.ARG123GLYGalactosemia (GALCT)
Swiss-ProtVAR_002577Diseasep.ARG148GLYGalactosemia (GALCT)
Swiss-ProtVAR_008047Diseasep.ARG272GLYGalactosemia (GALCT)
Swiss-ProtVAR_002625Diseasep.ARG333GLYGalactosemia (GALCT)
Swiss-ProtVAR_002594Diseasep.ARG201HISGalactosemia (GALCT)
Swiss-ProtVAR_002601Diseasep.ARG231HISGalactosemia (GALCT)
Swiss-ProtVAR_002622Diseasep.ARG328HISGalactosemia (GALCT)
Swiss-ProtVAR_068534Diseasep.ARG33HISGalactosemia (GALCT)
Swiss-ProtVAR_068830Diseasep.ARG333LEUGalactosemia (GALCT)
Swiss-ProtVAR_002553Diseasep.ARG51LEUGalactosemia (GALCT)
Swiss-ProtVAR_008045Diseasep.ARG204PROGalactosemia (GALCT)
Swiss-ProtVAR_002607Diseasep.ARG262PROGalactosemia (GALCT)
Swiss-ProtVAR_068546Diseasep.ARG223SERGalactosemia (GALCT)
Swiss-ProtVAR_002579Diseasep.ARG148TRPGalactosemia (GALCT)
Swiss-ProtVAR_002606Diseasep.ARG259TRPGalactosemia (GALCT)
Swiss-ProtVAR_002627Diseasep.ARG333TRPGalactosemia (GALCT)
dbSNPrs2070074 Polymorphismp.ASN314ASPN/A
Swiss-ProtVAR_002559Diseasep.ASN97SERGalactosemia (GALCT)
Swiss-ProtVAR_002561Diseasep.ASP113ASNGalactosemia (GALCT)
Swiss-ProtVAR_002560Diseasep.ASP98ASNGalactosemia (GALCT)
Swiss-ProtVAR_068533Diseasep.ASP28HISGalactosemia (GALCT)
Swiss-ProtVAR_002548Diseasep.ASP28TYRGalactosemia (GALCT)
Swiss-ProtVAR_002569Diseasep.CYS130TYRGalactosemia (GALCT)
Swiss-ProtVAR_068825Diseasep.GLN103ARGGalactosemia (GALCT)
Swiss-ProtVAR_002587Diseasep.GLN188ARGGalactosemia (GALCT)
Swiss-ProtVAR_002615Diseasep.GLN317ARGGalactosemia (GALCT)
Swiss-ProtVAR_002564Diseasep.GLN118HISGalactosemia (GALCT)
Swiss-ProtVAR_002598Diseasep.GLN212HISGalactosemia (GALCT)
Swiss-ProtVAR_023331Diseasep.GLN252HISGalactosemia (GALCT)
Swiss-ProtVAR_002614Diseasep.GLN317HISGalactosemia (GALCT)
Swiss-ProtVAR_068531Diseasep.GLN9HISGalactosemia (GALCT)
Swiss-ProtVAR_002630Diseasep.GLN344LYSGalactosemia (GALCT)
Swiss-ProtVAR_002550Diseasep.GLN38PROGalactosemia (GALCT)
Swiss-ProtVAR_002595Diseasep.GLU203LYSGalactosemia (GALCT)
Swiss-ProtVAR_068545Diseasep.GLU220LYSGalactosemia (GALCT)
Swiss-ProtVAR_002611Diseasep.GLU291LYSGalactosemia (GALCT)
Swiss-ProtVAR_002612Diseasep.GLU308LYSGalactosemia (GALCT)
Swiss-ProtVAR_068552Diseasep.GLU291VALGalactosemia (GALCT)
Swiss-ProtVAR_002584Diseasep.GLY179ASPGalactosemia (GALCT)
Swiss-ProtVAR_002554Diseasep.GLY55CYSGalactosemia (GALCT)
Swiss-ProtVAR_068537Diseasep.HIS132GLNGalactosemia (GALCT)
Swiss-ProtVAR_002586Diseasep.HIS184GLNGalactosemia (GALCT)
Swiss-ProtVAR_002616Diseasep.HIS319GLNGalactosemia (GALCT)
Swiss-ProtVAR_002562Diseasep.HIS114LEUGalactosemia (GALCT)
Swiss-ProtVAR_002570Diseasep.HIS132TYRGalactosemia (GALCT)
Swiss-ProtVAR_068550Diseasep.ILE278ASNGalactosemia (GALCT)
Swiss-ProtVAR_002549Diseasep.ILE32ASNGalactosemia (GALCT)
Swiss-ProtVAR_002591Diseasep.ILE198METGalactosemia (GALCT)
Swiss-ProtVAR_068539Diseasep.ILE170THRGalactosemia (GALCT)
Swiss-ProtVAR_002592Diseasep.ILE198THRGalactosemia (GALCT)
Swiss-ProtVAR_002610Diseasep.LEU289ARGGalactosemia (GALCT)
Swiss-ProtVAR_068554Diseasep.LEU342ILEGalactosemia (GALCT)
Swiss-ProtVAR_002555Polymorphismp.LEU62METN/A
Swiss-ProtVAR_068551Diseasep.LEU289PHEGalactosemia (GALCT)
Swiss-ProtVAR_002573Diseasep.LEU139PROGalactosemia (GALCT)
Swiss-ProtVAR_002590Diseasep.LEU195PROGalactosemia (GALCT)
Swiss-ProtVAR_002599Diseasep.LEU217PROGalactosemia (GALCT)
Swiss-ProtVAR_002600Diseasep.LEU226PROGalactosemia (GALCT)
Swiss-ProtVAR_068547Diseasep.LEU227PROGalactosemia (GALCT)
Swiss-ProtVAR_068553Diseasep.LEU327PROGalactosemia (GALCT)
Swiss-ProtVAR_002557Diseasep.LEU74PROGalactosemia (GALCT)
dbSNPrs2070075 Polymorphismp.LEU218VALN/A
Swiss-ProtVAR_002608Diseasep.LEU282VALGalactosemia (GALCT)
Swiss-ProtVAR_068829Diseasep.LYS285ARGGalactosemia (GALCT)
Swiss-ProtVAR_002628Diseasep.LYS334ARGGalactosemia (GALCT)
Swiss-ProtVAR_023330Diseasep.LYS229ASNGalactosemia (GALCT)
Swiss-ProtVAR_002609Diseasep.LYS285ASNGalactosemia (GALCT)
Swiss-ProtVAR_002568Diseasep.LYS127GLUGalactosemia (GALCT)
Swiss-ProtVAR_002629Diseasep.MET336LEUGalactosemia (GALCT)
Swiss-ProtVAR_002574Diseasep.MET142LYSGalactosemia (GALCT)
Swiss-ProtVAR_008043Diseasep.MET129THRGalactosemia (GALCT)
Swiss-ProtVAR_002575Diseasep.MET142VALGalactosemia (GALCT)
Swiss-ProtVAR_002589Diseasep.PHE194LEUGalactosemia (GALCT)
Swiss-ProtVAR_002563Diseasep.PHE117SERGalactosemia (GALCT)
Swiss-ProtVAR_002583Diseasep.PHE171SERGalactosemia (GALCT)
Swiss-ProtVAR_008048Diseasep.PHE294TYRGalactosemia (GALCT)
Swiss-ProtVAR_068826Diseasep.PRO166ALAGalactosemia (GALCT)
Swiss-ProtVAR_068549Diseasep.PRO265ALAGalactosemia (GALCT)
Swiss-ProtVAR_068541Diseasep.PRO185HISGalactosemia (GALCT)
Swiss-ProtVAR_068828Diseasep.PRO185LEUGalactosemia (GALCT)
Swiss-ProtVAR_002621Diseasep.PRO325LEUGalactosemia (GALCT)
Swiss-ProtVAR_068542Diseasep.PRO185SERGalactosemia (GALCT)
Swiss-ProtVAR_002620Diseasep.PRO324SERGalactosemia (GALCT)
Swiss-ProtVAR_002585Diseasep.PRO183THRGalactosemia (GALCT)
Swiss-ProtVAR_068540Diseasep.SER181ALAGalactosemia (GALCT)
Swiss-ProtVAR_068536Diseasep.SER112ARGGalactosemia (GALCT)
Swiss-ProtVAR_002588Diseasep.SER192ASNGalactosemia (GALCT)
Swiss-ProtVAR_068543Diseasep.SER192GLYGalactosemia (GALCT)
Swiss-ProtVAR_002571Diseasep.SER135LEUGalactosemia (GALCT)
Swiss-ProtVAR_002576Diseasep.SER143LEUGalactosemia (GALCT)
Swiss-ProtVAR_008042Diseasep.SER45LEUGalactosemia (GALCT)
Swiss-ProtVAR_068827Diseasep.SER181PHEGalactosemia (GALCT)
Swiss-ProtVAR_002623Diseasep.SER329PHEGalactosemia (GALCT)
Swiss-ProtVAR_023329Diseasep.SER135TRPGalactosemia (GALCT)
Swiss-ProtVAR_068532Diseasep.THR23ALAGalactosemia (GALCT)
Swiss-ProtVAR_002631Diseasep.THR350ALAGalactosemia (GALCT)
Swiss-ProtVAR_002572Diseasep.THR138METGalactosemia (GALCT)
Swiss-ProtVAR_008044Diseasep.TRP167ARGGalactosemia (GALCT)
Swiss-ProtVAR_002602Diseasep.TRP249ARGGalactosemia (GALCT)
Swiss-ProtVAR_002582Diseasep.TRP154GLYGalactosemia (GALCT)
Swiss-ProtVAR_068535Diseasep.TYR34ASNGalactosemia (GALCT)
Swiss-ProtVAR_002618Diseasep.TYR323ASPGalactosemia (GALCT)
Swiss-ProtVAR_002596Diseasep.TYR209CYSGalactosemia (GALCT)
Swiss-ProtVAR_002603Diseasep.TYR251CYSGalactosemia (GALCT)
Swiss-ProtVAR_002619Diseasep.TYR323HISGalactosemia (GALCT)
Swiss-ProtVAR_068824Diseasep.TYR89HISGalactosemia (GALCT)
Swiss-ProtVAR_002597Diseasep.TYR209SERGalactosemia (GALCT)
Swiss-ProtVAR_002604Diseasep.TYR251SERGalactosemia (GALCT)
Swiss-ProtVAR_002567Diseasep.VAL125ALAGalactosemia (GALCT)
Swiss-ProtVAR_002581Diseasep.VAL151ALAGalactosemia (GALCT)
Swiss-ProtVAR_002580Diseasep.VAL150LEUGalactosemia (GALCT)
Swiss-ProtVAR_068538Diseasep.VAL168LEUGalactosemia (GALCT)
Swiss-ProtVAR_002551Diseasep.VAL44LEUGalactosemia (GALCT)
Swiss-ProtVAR_002552Diseasep.VAL44METGalactosemia (GALCT)
OMIM606999.0015 Diseasep.ARG333GLYGALACTOSEMIA
OMIM606999.0002 Diseasep.ARG333TRPGALACTOSEMIA
OMIM606999.0006 Diseasep.GLN188ARGGALACTOSEMIA
OMIM606999.0014 Diseasep.GLU203LYSGALACTOSEMIA
OMIM606999.0009 Diseasep.HIS319GLNGALACTOSEMIA
OMIM606999.0007 Diseasep.LEU74PROGALACTOSEMIA
OMIM606999.0013 Diseasep.LYS285ASNGALACTOSEMIA
OMIM606999.0001 Diseasep.MET142LYSGALACTOSEMIA
OMIM606999.0016 Diseasep.PHE194LEUGALACTOSEMIA
OMIM606999.0008 Diseasep.PHE171SERGALACTOSEMIA
OMIM606999.0011 Diseasep.PRO183THRGALACTOSEMIA
OMIM606999.0010 Diseasep.SER135LEUGALACTOSEMIA
OMIM606999.0003 Diseasep.VAL44METGALACTOSEMIA



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