Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07902: Variant p.Phe171Ser

Galactose-1-phosphate uridylyltransferase
Gene: GALT
Feedback?
Variant information Variant position: help 171 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 Phenylalanine (F) to Serine (S) at position 171 (F171S, p.Phe171Ser). 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 large size and aromatic (F) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In GALAC1; reduced enzyme activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 379 The length of the canonical sequence.
Location on the sequence: help VDAWASVTEELGAQYPWVQI F ENKGAMMGCSNPHPHCQVWA 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.
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 – 379 Galactose-1-phosphate uridylyltransferase
Active site 186 – 186 Tele-UMP-histidine intermediate
Binding site 173 – 173
Binding site 184 – 184
Binding site 188 – 188 in other chain
Beta strand 166 – 175



Literature citations
Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.
Reichardt J.K.V.; Levy H.L.; Woo S.L.C.;
Biochemistry 31:5430-5433(1992)
Cited for: VARIANTS GALAC1 PRO-74 AND SER-171; VARIANT LEU-135; Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: Identification of 10 novel mutations and their structural and functional implications.
Singh R.; Thapa B.R.; Kaur G.; Prasad R.;
Clin. Chim. Acta 414:191-196(2012)
Cited for: VARIANTS GALAC1 HIS-89; ARG-103; ALA-166; SER-171; PHE-181; LEU-185; ARG-188; ARG-285; GLN-319 AND LEU-333; VARIANT ASP-314;
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.