Variant position: 335 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 QEELGWTAALGLDRMCEDLW RWQKQNPSGFGTQA
Mouse HEELGWTAALGLDRMCEDLW RWQKQNPSGFGAQA
Rat HEELGWTAALGLDRMCEDLW RWQKQNPSGLGAHG
Bovine LKELGWSAALGLDRMCEDLW RWQKQNPSGFGTQA
Caenorhabditis elegans QEKLGWRAETGLEEMCADLW NWQTKNPQGFSA--
Drosophila DKKLGWKAERGIDKMCEDTW RWQSQNPNGYANK-
Slime mold LKELGWKATHNQDDMCRDAW KWQSLNPNGYSDS-
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.
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;
The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.
Park H.-D.; Park K.U.; Kim J.Q.; Shin C.H.; Yang S.W.; Lee D.H.; Song Y.-H.; Song J.;
Genet. Med. 7:646-649(2005)
Cited for: VARIANTS GALAC3 VAL-25; CYS-40; GLU-69; LYS-165; TRP-169; TRP-239; ASP-302 AND HIS-335;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.