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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14376: Variant p.Val128Met

UDP-glucose 4-epimerase
Gene: GALE
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Variant information Variant position: help 128 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Valine (V) to Methionine (M) at position 128 (V128M, p.Val128Met). 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: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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: help In THC13; likely pathogenic. Any additional useful information about the variant.


Sequence information Variant position: help 128 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 348 The length of the canonical sequence.
Location on the sequence: help NLTGTIQLLEIMKAHGVKNL V FSSSATVYGNPQYLPLDEAH 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         NLTGTIQLLEIMKAHGVKNLVFSSSATVYGNPQYLPLD-EAH

Mouse                         NLTGTIQLLEIMRAHGVKNLVFSSSATVYGNPQYLPLD-EA

Rat                           NLTGTIQLLEIMRAMGVKSLVFSSSATVYGKP--VPASGRG

Bovine                        NLTGTIQLLEIMRAHGVKNLVFSSSATVYGNPQYLPLD-EA

Caenorhabditis elegans        NLVASLNLIQMCLKYNVKNFVFSSSATVYGPPSELPITEKS

Drosophila                    NMTGTNVLLEAMADNNVFKFVYSSSATVYGEPKFLPVT-EE

Slime mold                    NIAGTLTLLNLMDKHRVKKLVFSSSATVYGDPHTVPIT-ED
Sequence annotation in neighborhood: help 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
Mutagenesis 132 – 132 S -> A. Loss of activity.
Beta strand 126 – 132



Literature citations
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
Marin-Quilez A.; Di Buduo C.A.; Diaz-Ajenjo L.; Abbonante V.; Vuelta E.; Soprano P.M.; Miguel-Garcia C.; Santos-Minguez S.; Serramito-Gomez I.; Ruiz-Sala P.; Penarrubia M.J.; Pardal E.; Hernandez-Rivas J.M.; Gonzalez-Porras J.R.; Garcia-Tunon I.; Benito R.; Rivera J.; Balduini A.; Bastida J.M.;
Blood 141:406-421(2023)
Cited for: VARIANTS THC13 MET-128 AND PRO-223; INVOLVEMENT IN THC13;
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.