PDB ID 1EK5 CHAIN A
Protein name UDP-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
1EK5 (CHAIN: A)
1 Q14376  
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partners
  1
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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 rs1431772923 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
34_ASN SER ClinVar
chr1:24125397
rs121908046 Pathogenic UDPglucose-4-epimerase deficiency [MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004]; not provided [MedGen:CN517202]
40_ARG CYS VAR_037734 rs144492228 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
69_ASP GLU VAR_037735 rs1261697960 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
90_GLY GLU ClinVar
chr1:24124689
rs28940882 Pathogenic UDPglucose-4-epimerase deficiency [MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004]
94_VAL MET ClinVar
chr1:24124678
rs121908047 Pathogenic/Likely pathogenic Galactose epimerase deficiency, severe [MedGen:C4017048]; UDPglucose-4-epimerase deficiency [MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004]; not provided [MedGen:CN517202]
103_ASP GLY ClinVar
chr1:24124650
rs28940883 Pathogenic UDPglucose-4-epimerase deficiency [MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004]
136_TYR TER ClinVar
chr1:24124305
rs727503943 Pathogenic not provided [MedGen:CN517202]
165_GLU LYS VAR_037736 rs528467258 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
169_ARG TRP ClinVar
chr1:24124208
rs137853859 Pathogenic UDPglucose-4-epimerase deficiency [MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004]; not provided [MedGen:CN517202]
180_ALA VAL VAR_002542 rs3204468 Polymorphism -
183_LEU PRO ClinVar
chr1:24123618
rs121908045 Pathogenic UDPglucose-4-epimerase deficiency [MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004]
239_ARG TRP ClinVar
chr1:24123267
rs137853860 Likely pathogenic UDPglucose-4-epimerase deficiency [MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004]
257_LYS ARG VAR_002544 rs28940884 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
302_GLY ASP ClinVar
chr1:24122724
rs137853861 Pathogenic UDPglucose-4-epimerase deficiency [MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004]
313_LEU MET ClinVar
chr1:24122692
rs3180383 Pathogenic UDPglucose-4-epimerase deficiency [MedGen:C0751161,OMIM:230350,Orphanet:ORPHA79238,SNOMED CT:8849004]
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]