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UniProtKB/Swiss-Prot Q14376: Variant p.Lys257Arg

UDP-glucose 4-epimerase
Gene: GALE
Variant information

Variant position:  257
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Lysine (K) to Arginine (R) at position 257 (K257R, p.Lys257Arg).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are large size and basic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In GALAC3; 7-fold decrease in UDP-galactose epimerization activity; does not affect affinity for UDP-galactose.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  257
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:   GVRDYIHVVDLAKGHIAALR  K LKEQCGCRIYNLGTGTGYSV
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                         GVRDYIHVVDLAKGHIAALRKLKE--QCGCRIYNLGTGTGYSV

Mouse                         GVRDYIHVVDLAKGHIAALKKLKE--QCGCRTYNLGTGTGY

Rat                           GVRDYIHVVDLAKGHIAALKKLKE--QCGCRIYNLGTGTGY

Bovine                        GVRDYIHVVDLAKGHIAALRKLKE--QCGCRIYNLGTGTGY

Caenorhabditis elegans        GVRDYIHVVDLAKGHVKAFDRIKTVGNIGTEIYNLGTGVGY

Drosophila                    GVRDYIHIVDLAEGHVKALDKLRNIAETGFFAYNLGTGVGY

Slime mold                    GVRDFIHVVDLAKGHISALSSLHS-KKQGCVAYNLGTGRGY

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.

TypePositionsDescription
Chain 1 – 348 UDP-glucose 4-epimerase
Binding site 239 – 239 Substrate
Helix 244 – 258


Literature citations

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;

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.
Timson D.J.;
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;

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 GALAC3 ARG-257 AND GLU-319;

Disclaimer: 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.