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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14376: Variant p.Thr150Met

UDP-glucose 4-epimerase
Gene: GALE
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Variant information Variant position: help 150 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 Threonine (T) to Methionine (M) at position 150 (T150M, p.Thr150Met). 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 Change from medium size and polar (T) to medium size and hydrophobic (M) 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; 3-fold decreased catalytic efficiency for UDP-galactose epimerization. Any additional useful information about the variant.


Sequence information Variant position: help 150 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 SSSATVYGNPQYLPLDEAHP T GGCTNPYGKSKFFIEEMIRD 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                         SSSATVYGNPQYLPLD-EAHPTGGCTNPYGKSKFFIEEMIRD

Mouse                         SSSATVYGNPQYLPLD-EAHPTGGCTNPYGKSKFFIEEMIR

Rat                           SSSATVYGKP--VPASGRGPPHRGCTKPYGKSKFFIEEMIQ

Bovine                        SSSATVYGNPQYLPLD-EAHPTGGCTNPYGKSKFFIEEMIR

Caenorhabditis elegans        SSSATVYGPPSELPITEKSQTGQGITNPYGQTKYMMEQILI

Drosophila                    SSSATVYGEPKFLPVT-EEHPTGNCTSPYGKTKYFTEEILK

Slime mold                    SSSATVYGDPHTVPIT-EDFPL-SATNPYGRTKLYVEGILQ
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
Active site 157 – 157 Proton acceptor
Binding site 161 – 161
Mutagenesis 132 – 132 S -> A. Loss of activity.
Mutagenesis 157 – 157 Y -> F. Loss of activity.



Literature citations
Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia.
Chhay J.S.; Vargas C.A.; McCorvie T.J.; Fridovich-Keil J.L.; Timson D.J.;
J. Inherit. Metab. Dis. 31:108-116(2008)
Cited for: CHARACTERIZATION OF VARIANT MET-150; MUTAGENESIS OF SER-81;
Expansion of the clinical phenotype of GALE deficiency.
Markovitz R.; Owen N.; Satter L.F.; Kirk S.; Mahoney D.H.; Bertuch A.A.; Scaglia F.;
Am. J. Med. Genet. A 185:3118-3121(2021)
Cited for: VARIANT THC13 MET-150; 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.