Variant position: 319 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 RREGDVAACYANPSLAQEEL GWTAALGLDRMCEDLWRWQKQ
Mouse RREGDVAACYANPSLAHEEL GWTAALGLDRMCEDLWRWQKQ
Rat RREGDVAACYANPSLAHEEL GWTAALGLDRMCEDLWRWQKQ
Bovine RREGDVAACYANPSLALKEL GWSAALGLDRMCEDLWRWQKQ
Caenorhabditis elegans PRPGDVASVYCDPSLAQEKL GWRAETGLEEMCADLWNWQTK
Drosophila RRSGDVATCYADATLADKKL GWKAERGIDKMCEDTWRWQSQ
Slime mold RRKGDVASSFADPSKALKEL GWKATHNQDDMCRDAWKWQSL
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
307 – 307 C -> Y. No effect on activity towards UDP-galactose. Loss of activity towards UDP-N-acetylgalactosamine.
Human UDP-galactose 4'epimerase (GALE) gene and identification of five missense mutations in patients with epimerase deficiency galactosemia.
Maceratesi P.; Daude N.; Dallapiccola B.; Novelli G.; Allen R.; Okano Y.; Reichardt J.K.V.;
Mol. Genet. Metab. 63:26-30(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS EDG GLU-90; GLY-103; ARG-257; MET-313 AND GLU-319;
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;
Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.
Wasilenko J.; Lucas M.E.; Thoden J.B.; Holden H.M.; Fridovich-Keil J.L.;
Mol. Genet. Metab. 84:32-38(2005)
Cited for: CHARACTERIZATION OF VARIANTS EDG ARG-257 AND GLU-319;
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