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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78381: Variant p.Tyr130Cys

UDP-galactose translocator
Gene: SLC35A2
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Variant information Variant position: help 130 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 Tyrosine (Y) to Cysteine (C) at position 130 (Y130C, p.Tyr130Cys). 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 (Y) to medium size and polar (C) 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; loss of UDP-galactose transport in patient fibroblasts; no effect on localization to Golgi apparatus. Any additional useful information about the variant.


Sequence information Variant position: help 130 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 VDTLKLAVPSLIYTLQNNLQ Y VAISNLPAATFQVTYQLKIL 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                         VDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQVTYQLKIL

                              VDTLKLAVPSLIYTLQNNLQYVAISNMPAATFQVTYQLKIL

Mouse                         VDTLKLAVPSLIYTLQNNLQYVAISNLPAATFQVTYQLKIL

Bovine                        MDTLKLAVPSLIYTLQNNLQYIAISNLPAATFQVTYQLKIL
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
Mutagenesis 125 – 125 Q -> A. Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport; when associated with A-126, A-129 and A-278. No effect on localization to Golgi apparatus.
Mutagenesis 126 – 126 N -> A. Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport; when associated with A-125, A-129 and A-278. No effect on localization to Golgi apparatus.
Mutagenesis 129 – 129 Q -> A. Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport; when associated with A-125, A-126 and A-278. No effect on localization to Golgi apparatus.
Mutagenesis 141 – 141 F -> A. No effect on localization to Golgi apparatus.
Mutagenesis 142 – 142 Q -> A. No effect on localization to Golgi apparatus.
Mutagenesis 145 – 145 Y -> A. No effect on localization to Golgi apparatus.
Mutagenesis 146 – 146 Q -> A. No effect on localization to Golgi apparatus.
Mutagenesis 148 – 148 K -> A. Partially rescues defective Gb3Cer expression in SLC35A2-deficient cells suggesting reduced UDP-galactose transport. No effect on localization to Golgi apparatus.



Literature citations
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported individuals.
Ng B.G.; Sosicka P.; Agadi S.; Almannai M.; Bacino C.A.; Barone R.; Botto L.D.; Burton J.E.; Carlston C.; Chung B.H.; Cohen J.S.; Coman D.; Dipple K.M.; Dorrani N.; Dobyns W.B.; Elias A.F.; Epstein L.; Gahl W.A.; Garozzo D.; Hammer T.B.; Haven J.; Heron D.; Herzog M.; Hoganson G.E.; Hunter J.M.; Jain M.; Juusola J.; Lakhani S.; Lee H.; Lee J.; Lewis K.; Longo N.; Lourenco C.M.; Mak C.C.Y.; McKnight D.; Mendelsohn B.A.; Mignot C.; Mirzaa G.; Mitchell W.; Muhle H.; Nelson S.F.; Olczak M.; Palmer C.G.S.; Partikian A.; Patterson M.C.; Pierson T.M.; Quinonez S.C.; Regan B.M.; Ross M.E.; Guillen Sacoto M.J.; Scaglia F.; Scheffer I.E.; Segal D.; Singhal N.S.; Striano P.; Sturiale L.; Symonds J.D.; Tang S.; Vilain E.; Willis M.; Wolfe L.A.; Yang H.; Yano S.; Powis Z.; Suchy S.F.; Rosenfeld J.A.; Edmondson A.C.; Grunewald S.; Freeze H.H.;
Hum. Mutat. 40:908-925(2019)
Cited for: VARIANTS CDG2M PRO-55; 56-TYR--SER-396 DEL; 65-PHE--THR-68 DEL; MET-71; PHE-82; PRO-101; PRO-116; ARG-118; CYS-130; 168-GLN--SER-396 DEL; LEU-175 DEL; PHE-175; 183-GLN--SER-396 DEL; SER-188; PRO-233; 272-TRP--SER-396 DEL; ASP-273; PRO-303; TYR-312; PRO-315 AND ILE-331; CHARACTERIZATION OF VARIANTS CDG2M MET-71; PHE-82; CYS-130; 168-GLN--SER-396 DEL; PRO-233 AND PRO-315; FUNCTION;
A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and SLC35A2.
Li D.; Mukhopadhyay S.;
J. Biol. Chem. 297:101069-101069(2021)
Cited for: MUTAGENESIS OF PHE-65; GLU-75; GLN-125; ASN-126; GLN-129; PHE-141; GLN-142; TYR-145; GLN-146; LYS-148; THR-152; SER-213; ASN-235; GLY-239; ASN-277; GLN-278; VAL-285; ASN-294; LYS-297; THR-301 AND SER-308; CHARACTERIZATION OF VARIANTS CDG2M MET-71; PHE-82; CYS-130; PHE-175; PRO-233; ASP-273 AND PRO-315;
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.