PDB ID 1EK6 CHAINA
Protein nameUDP-GALACTOSE 4-EPIMERASE
Uniprot Accession Q14376
The number of similar proteins 13
The number of binding states 1
The number of binding partners 1
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
1EK6 (CHAIN: A)
1 Q14376
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partners
  1
  0
Sequence information
1  MAEKVLVTGG   AGYIGSHTVL   ELLEAGYLPV   VIDNFHNAFR   GGGSLPESLR   50
51  RVQELTGRSV   EFEEMDILDQ   GALQRLFKKY   SFMAVIHFAG   LKAVGESVQK   100
101  PLDYYRVNLT   GTIQLLEIMK   AHGVKNLVFS   SSATVYGNPQ   YLPLDEAHPT   150
151  GGCTNPYGKS   KFFIEEMIRD   LCQADKTWNA   VLLRYFNPTG   AHASGCIGED   200
201  PQGIPNNLMP   YVSQVAIGRR   EALNVFGNDY   DTEDGTGVRD   YIHVVDLAKG   250
251  HIAALRKLKE   QCGCRIYNLG   TGTGYSVLQM   VQAMEKASGK   KIPYKVVARR   300
301  EGDVAACYAN   PSLAQEELGW   TAALGLDRMC   EDLWRWQKQN   PSGFGTQA   350
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
25_ALA VAL VAR_037733 - Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
34_ASN SER VAR_002539 rs121908046 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
40_ARG CYS VAR_037734 rs144492228 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
69_ASP GLU VAR_037735 - Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
90_GLY GLU VAR_002540 rs28940882 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
94_VAL MET VAR_010058 rs121908047 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
103_ASP GLY VAR_002541 rs28940883 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
165_GLU LYS VAR_037736 rs528467258 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
169_ARG TRP VAR_037737 rs137853859 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
180_ALA VAL VAR_002542 rs3204468 Polymorphism -
183_LEU PRO VAR_002543 rs121908045 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
239_ARG TRP VAR_037738 rs137853860 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
257_LYS ARG VAR_002544 rs28940884 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
302_GLY ASP VAR_037739 rs137853861 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
313_LEU MET VAR_002545 rs3180383 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
319_GLY GLU VAR_002546 rs28940885 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
335_ARG HIS VAR_037740 rs368637540 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]