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Results for the Protein: P19367
116242516
HK1

HXK1_HUMAN RecName: Full=Hexokinase-1; AltName: Full=Brain form hexokinase; AltName: Full=Hexokinase type I; Short=HK I

Known Diseases associated with this Protein:
  HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
  HEXOKINASE DEFICIENCY (HK DEFICIENCY)
4
1
2
0
3
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Default View:

COG5026 - COG5026
Hexokinase_1 - pfam00349
Hexokinase_2 - pfam03727


Swiss-Prot Protein: P19367
Identical to: NP_000179
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG5026COG50267.4e-821466
Hexokinase_1pfam003495.2e-13217221
Hexokinase_2pfam037271.6e-157223460
Hexokinase_1pfam003494.6e-137465669
COG5026COG50261e-96467915
Hexokinase_2pfam037271.1e-162671908

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023781Polymorphismp.LEU776METN/A
Swiss-ProtVAR_009878Diseasep.LEU529SERHexokinase deficiency (HK deficiency)
Swiss-ProtVAR_023780Diseasep.THR680SERHexokinase deficiency (HK deficiency)
OMIM142600.0002 Diseasep.LEU525SERHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
OMIM142600.0004 Diseasep.THR676SERHEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY



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