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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78381: Variant p.Ser213Phe

UDP-galactose translocator
Gene: SLC35A2
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Variant information Variant position: help 213 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 Serine (S) to Phenylalanine (F) at position 213 (S213F, p.Ser213Phe). 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 small size and polar (S) to large size and aromatic (F) 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 CDG2M; has no effect on localization to Golgi; partially rescues defective Gb3Cer expression in SLC35A2-deficient cells. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 396 The length of the canonical sequence.
Location on the sequence: help RPLDQNPGAGLAAVVASCLS S GFAGVYFEKILKGSSGSVWL 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                         RPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWL

                              RPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWL

Mouse                         RPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWL

Bovine                        RPLDQNPGVGLAAVVASCLSSGFAGVYFEKILKGSSGSVWL
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 – 396 UDP-galactose translocator
Transmembrane 200 – 220 Helical
Alternative sequence 143 – 396 VTYQLKILTTALFSVLMLNRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGLFGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQLSSHRGDLITEPFLPKLLTKVKGS -> PSPRCSQSHSLCLCLRLRALRSPAASRAATTTAAVFPPWRPHHGALSAKVSAGEVRAGSNGGTQGRGTGVEGVGHLQDPSRHPPGPGSSGFGRWSFLPGH. In isoform 3.
Mutagenesis 202 – 202 G -> I. Partially rescues defective Gb3Cer expression in SLC35A2-deficient cells suggesting reduced UDP-galactose transport.
Mutagenesis 213 – 213 S -> A. No effect on localization to Golgi apparatus.
Mutagenesis 214 – 214 G -> I. Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport.



Literature citations
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
Kodera H.; Nakamura K.; Osaka H.; Maegaki Y.; Haginoya K.; Mizumoto S.; Kato M.; Okamoto N.; Iai M.; Kondo Y.; Nishiyama K.; Tsurusaki Y.; Nakashima M.; Miyake N.; Hayasaka K.; Sugahara K.; Yuasa I.; Wada Y.; Matsumoto N.; Saitsu H.;
Hum. Mutat. 34:1708-1714(2013)
Cited for: INVOLVEMENT IN CDG2M; VARIANT CDG2M PHE-213; CHARACTERIZATION OF VARIANT CDG2M PHE-213; SUBCELLULAR LOCATION; Functional analyses of the UDP-galactose transporter SLC35A2 using the binding of bacterial Shiga toxins as a novel activity assay.
Li D.; Mukhopadhyay S.;
Glycobiology 29:490-503(2019)
Cited for: CHARACTERIZATION OF VARIANTS LEU-55; MET-258; CYS-267; ARG-282 AND PRO-304; CHARACTERIZATION OF VARIANTS CDG2M PHE-213; VAL-266 AND ILE-331; MUTAGENESIS OF LYS-78; GLY-202; GLY-214 AND LYS-297; FUNCTION;
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.