UniProtKB/Swiss-Prot P78381: Variant p.Ser304Pro

UDP-galactose translocator
Gene: SLC35A2
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Variant information Variant position:

304 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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:

From Serine (S) to Proline (P) at position 304 (S304P, p.Ser304Pro). 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:

Change from small size and polar (S) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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:

Found in a patient with non-lesional focal epilepsy; uncertain significance; somatic mutation; able to rescue defective Gb3Cer expression in SLC35A2-deficient cells. Any additional useful information about the variant.

Sequence information Variant position:

304 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

396 The length of the canonical sequence.
Location on the sequence:

LVAVVVKYADNILKGFATSL S IVLSTVASIRLFGFHVDPLF 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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         LVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHVDPLF

                              LVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHVDPLF

Mouse                         LVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHLDPLF

Bovine                        LVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHVDPLF

Sequence annotation in neighborhood:

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.

Type	Positions	Description
Chain	1 – 396	UDP-galactose translocator
Alternative sequence	143 – 396	VTYQLKILTTALFSVLMLNRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGLFGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQLSSHRGDLITEPFLPKLLTKVKGS -> PSPRCSQSHSLCLCLRLRALRSPAASRAATTTAAVFPPWRPHHGALSAKVSAGEVRAGSNGGTQGRGTGVEGVGHLQDPSRHPPGPGSSGFGRWSFLPGH. In isoform 3.
Mutagenesis	285 – 285	V -> A. No effect on localization to Golgi apparatus.
Mutagenesis	294 – 294	N -> A. No effect on localization to Golgi apparatus.
Mutagenesis	297 – 297	K -> A. Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport.
Mutagenesis	297 – 297	K -> E. Does not rescue defective Gb3Cer expression in SLC35A2-deficient cells suggesting loss of UDP-galactose transport. No effect on localization to Golgi apparatus.
Mutagenesis	301 – 301	T -> A. No effect on localization to Golgi apparatus.
Mutagenesis	308 – 308	S -> F. No effect on localization to Golgi apparatus.

Literature citations
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Winawer M.R.; Griffin N.G.; Samanamud J.; Baugh E.H.; Rathakrishnan D.; Ramalingam S.; Zagzag D.; Schevon C.A.; Dugan P.; Hegde M.; Sheth S.A.; McKhann G.M.; Doyle W.K.; Grant G.A.; Porter B.E.; Mikati M.A.; Muh C.R.; Malone C.D.; Bergin A.M.R.; Peters J.M.; McBrian D.K.; Pack A.M.; Akman C.I.; LaCoursiere C.M.; Keever K.M.; Madsen J.R.; Yang E.; Lidov H.G.W.; Shain C.; Allen A.S.; Canoll P.D.; Crino P.B.; Poduri A.H.; Heinzen E.L.;
Ann. Neurol. 83:1133-1146(2018)
Cited for: VARIANTS LEU-55 AND PRO-304; 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.