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Results for the Protein: Q14376
68056598

GALE_HUMAN RecName: Full=UDP-glucose 4-epimerase; AltName: Full=Galactowaldenase; AltName: Full=UDP-galactose 4-epimerase

Known Diseases associated with this Protein:
  EPIMERASE-DEFICIENCY GALACTOSEMIA (EDG)
  GALACTOSE EPIMERASE DEFICIENCY
  GALACTOSE EPIMERASE DEFICIENCY, SEVERE
24
1
8
0
17
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Default View:

Gmd - COG1089
RfbD - COG1091
RfbB - COG1088
adh_short - pfam00106
GalE - COG1087
WcaG - COG0451
KR - pfam08659
RmlD_sub_bind - pfam04321
Epimerase - pfam01370
3Beta_HSD - pfam01073
NAD_binding_4 - pfam07993




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GmdCOG10899.7e-081339
RfbDCOG10914.8e-051334
WcaGCOG04514.9e-623343
GalECOG10872.4e-2063344
RfbBCOG10881e-103347
adh_shortpfam001060.000493176
Epimerasepfam013706.1e-715269
RmlD_sub_bindpfam043210.0015334
3Beta_HSDpfam010731.5e-056294
KRpfam086590.000995147
NAD_binding_4pfam079932.6e-057242

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_002542Polymorphismp.ALA180VALN/A
Swiss-ProtVAR_037733Diseasep.ALA25VALEpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_037734Diseasep.ARG40CYSEpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_037740Diseasep.ARG335HISEpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_037737Diseasep.ARG169TRPEpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_037738Diseasep.ARG239TRPEpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_002539Diseasep.ASN34SEREpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_037735Diseasep.ASP69GLUEpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_002541Diseasep.ASP103GLYEpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_037736Diseasep.GLU165LYSEpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_037739Diseasep.GLY302ASPEpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_002546Diseasep.GLY319GLUEpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_002540Diseasep.GLY90GLUEpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_002545Diseasep.LEU313METEpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_002543Diseasep.LEU183PROEpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_002544Diseasep.LYS257ARGEpimerase-deficiency galactosemia (EDG)
Swiss-ProtVAR_010058Diseasep.VAL94METEpimerase-deficiency galactosemia (EDG)
OMIM606953.0002 Diseasep.ASN34SERGALACTOSE EPIMERASE DEFICIENCY
OMIM606953.0004 Diseasep.ASP103GLYGALACTOSE EPIMERASE DEFICIENCY
OMIM606953.0007 Diseasep.GLY319GLUGALACTOSE EPIMERASE DEFICIENCY
OMIM606953.0003 Diseasep.GLY90GLUGALACTOSE EPIMERASE DEFICIENCY
OMIM606953.0006 Diseasep.LEU313METGALACTOSE EPIMERASE DEFICIENCY
OMIM606953.0001 Diseasep.LEU183PROGALACTOSE EPIMERASE DEFICIENCY
OMIM606953.0005 Diseasep.LYS257ARGGALACTOSE EPIMERASE DEFICIENCY
OMIM606953.0008 Diseasep.VAL94METGALACTOSE EPIMERASE DEFICIENCY, SEVERE



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