Variant position: 94 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 348 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human QRLFKKYSFMAVIHFAGLKA VGESVQKPLDYYRVNLTGTIQ
Mouse QHLFKKHSFKAVIHFAGLKA VGESVQKPLDYYRVNLTGTIQ
Rat QHLFKKHNFKAVIHFAGLKA VGESVQKPLDYYRVNLTGTIQ
Bovine QRLFKKHSFMAVIHFAGLKA VGESVQKPLDYYRVNLTGTIQ
Caenorhabditis elegans EKVFSENKFDGIIHLAALKA VGESVAKPLQYYSNNLVASLN
Drosophila RSVFQEHKIDMVAHFAALKA VGESCRIPLQYYHNNMTGTNV
Slime mold DEIFETGNIRSVIHFAGLKA VGESNKLPLKYYNNNIAGTLT
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 348 UDP-glucose 4-epimerase
88 – 88 NAD; via carbonyl oxygen
92 – 92 NAD
94 – 99
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.
Thoden J.B.; Wohlers T.M.; Fridovich-Keil J.L.; Holden H.M.;
J. Biol. Chem. 276:20617-20623(2001)
Cited for: X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF VARIANT EDG MET-94 IN COMPLEXES WITH NAD AND THE SUBSTRATE ANALOGS UDP-D-GALACTOSE; UDP-N-ACETYL-ALPHA-D-GLUCOSAMINE; UDP-D-GLUCOSE;
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
Wohlers T.M.; Christacos N.C.; Harreman M.T.; Fridovich-Keil J.L.;
Am. J. Hum. Genet. 64:462-470(1999)
Cited for: VARIANT EDG MET-94; CHARACTERIZATION OF VARIANTS EDG GLU-90; MET-94; GLY-103 AND MET-313;
Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia.
Wohlers T.M.; Fridovich-Keil J.L.;
J. Inherit. Metab. Dis. 23:713-729(2000)
Cited for: BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANT MET-94;
A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia.
Henderson J.M.; Huguenin S.M.; Cowan T.M.; Fridovich-Keil J.L.;
Clin. Genet. 60:350-355(2001)
Cited for: VARIANTS EDG SER-34; GLU-90; MET-94; GLY-103; PRO-183; ARG-257; MET-313; GLU-319 AND HIS-335;
Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase.
FEBS J. 272:6170-6177(2005)
Cited for: BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANTS EDG SER-34; GLU-90; MET-94; GLY-103; PRO-183; ARG-257; MET-313; GLU-319 AND HIS-335; SUBUNIT;
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