Variant position: 180 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 SKFFIEEMIRDLCQADKTWN AVLLRYFNPTGAHASGCIGED
Mouse SKFFIEEMIRDLCRADTAWN AVLLRYFNPIGAHASGRIGED
Rat SKFFIEEMIQDLCRADTAWN AVLLRYFIPIGAHRSARIGED
Bovine SKFFIEEMIRDLCQADKAWN AVLLRYFNPIGAHASGCIGED
Caenorhabditis elegans TKYMMEQILIDVGKANPEWN VVLLRYFNPVGAHKSGLIGED
Drosophila TKYFTEEILKDLCKSDKRWA VVSLRYFNPVGAHISGRIGED
Slime mold TKLYVEGILQDLCASDPEWN CIMLRYFNPVGAHPSGLIGED
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.
Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase.
Daude N.; Gallaher T.K.; Zeschnigk M.; Starzinski-Powitz A.; Petry K.G.; Haworth I.S.; Reichardt J.K.V.;
Biochem. Mol. Med. 56:1-7(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT VAL-180;
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
Quimby B.B.; Alano A.; Almashanu S.; Desandro A.M.; Cowan T.M.; Fridovich-Keil J.L.;
Am. J. Hum. Genet. 61:590-598(1997)
Cited for: VARIANTS GALAC3 SER-34 AND PRO-183; VARIANT VAL-180;
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