Variant position: 103 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 MAVIHFAGLKAVGESVQKPL DYYRVNLTGTIQLLEIMKAHG
Mouse KAVIHFAGLKAVGESVQKPL DYYRVNLTGTIQLLEIMRAHG
Rat KAVIHFAGLKAVGESVQKPL DYYRVNLTGTIQLLEIMRAMG
Bovine MAVIHFAGLKAVGESVQKPL DYYRVNLTGTIQLLEIMRAHG
Caenorhabditis elegans DGIIHLAALKAVGESVAKPL QYYSNNLVASLNLIQMCLKYN
Drosophila DMVAHFAALKAVGESCRIPL QYYHNNMTGTNVLLEAMADNN
Slime mold RSVIHFAGLKAVGESNKLPL KYYNNNIAGTLTLLNLMDKHR
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.
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 GALAC3 GLU-90; GLY-103; ARG-257; MET-313 AND GLU-319;
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 GALAC3 MET-94; CHARACTERIZATION OF VARIANTS GALAC3 GLU-90; MET-94; GLY-103 AND MET-313;
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 GALAC3 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 GALAC3 SER-34; GLU-90; MET-94; GLY-103; PRO-183; ARG-257; MET-313; GLU-319 AND HIS-335; SUBUNIT;
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