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Results for the Protein: P06744
17380385
GPI

G6PI_HUMAN RecName: Full=Glucose-6-phosphate isomerase; Short=GPI; AltName: Full=Autocrine motility factor; Short=AMF; AltName: Full=Neuroleukin; Short=NLK; AltName: Full=Phosphoglucose isomerase; Short=PGI; AltName: Full=Phosphohexose isomerase; Short=PHI; AltName: Full=Sperm antigen 36; Short=SA-36

Known Diseases associated with this Protein:
  DEFICIENCY
  GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
  HEMOLYTIC ANEMIA, NON-SPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (HA-GPID)
  HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO
  HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE
31
2
8
1
24
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Default View:

Pgi - COG0166
PGI - pfam00342
SIS_PGI_1 - cd05015
SIS_PGI_2 - cd05016
SIS - cd04795


Swiss-Prot Protein: P06744
Identical to: NP_000166
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SIS_PGI_1cd050154.2e-102123287
SIS_PGI_2cd050162.3e-129334525
SIScd047955e-58336501
PGIpfam0034254546

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_002526Diseasep.ALA300PROHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002529Diseasep.ARG347CYSHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002518Diseasep.ARG75GLYHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002524Diseasep.ARG273HISHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
dbSNPrs2230294 Polymorphismp.ARG308HISN/A
Swiss-ProtVAR_002530Diseasep.ARG347HISHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002533Diseasep.ARG472HISHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002519Diseasep.ARG83TRPHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002538Diseasep.ASP539ASNHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002528Diseasep.GLN343ARGHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002535Diseasep.GLU495LYSHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002520Diseasep.GLY159SERHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002532Diseasep.HIS389ARGHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002517Diseasep.HIS20PROHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_018816Polymorphismp.ILE208THRN/A
Swiss-ProtVAR_002537Diseasep.ILE525THRHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002534Diseasep.LEU487PHEHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002527Diseasep.LEU339PROHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002536Diseasep.LEU517VALHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002525Diseasep.SER278LEUHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002531Diseasep.THR375ARGHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002522Diseasep.THR195ILEHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002516Diseasep.THR5ILEHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002523Diseasep.THR224METHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
Swiss-ProtVAR_002521Diseasep.VAL101METHemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID)
OMIM172400.0002 Diseasep.ARG335HISHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE||DEFICIENCY
OMIM172400.0004 172400.0011 Diseasep.ASP528ASNHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE||DEFICIENCY
OMIM172400.0008 Diseasep.GLN332ARGHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE||DEFICIENCY
OMIM172400.0001 Diseasep.GLY119SERHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE||DEFICIENCY
OMIM172400.0003 Diseasep.ILE513THRHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE||DEFICIENCY
OMIM172400.0007 Diseasep.LEU328PROHEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO||GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
OMIM172400.0010 Diseasep.THR364ARGHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE||DEFICIENCY
OMIM172400.0005 Diseasep.THR213METHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE||DEFICIENCY



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