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UniProtKB/Swiss-Prot Q96L58: Variant p.Arg256Trp

Beta-1,3-galactosyltransferase 6
Gene: B3GALT6
Variant information

Variant position:  256
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Tryptophan (W) at position 256 (R256W, p.Arg256Trp).
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 large size and basic (R) to large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  In SEMDJL1; decreased localization to the Golgi apparatus.
Any additional useful information about the variant.



Sequence information

Variant position:  256
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  329
The length of the canonical sequence.

Location on the sequence:   RAWHSEDVSLGAWLAPVDVQ  R EHDPRFDTEYRSRGCSNQYL
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                         RAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYL

Mouse                         RAWHSEDVSLGTWLAPVDVQREHDPRFDTEYKSRGCNNQYL

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.

TypePositionsDescription
Chain 1 – 329 Beta-1,3-galactosyltransferase 6
Topological domain 35 – 329 Lumenal


Literature citations

A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some beta3GalT6-pathy mutations.
Ben-Mahmoud A.; Ben-Salem S.; Al-Sorkhy M.; John A.; Ali B.R.; Al-Gazali L.;
Clin. Genet. 93:1148-1158(2018)
Cited for: FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; VARIANT ALGAZ TRP-206; CHARACTERIZATION OF VARIANTS ALGAZ TYR-159; TRP-206 AND ASP-265; CHARACTERIZATION OF VARIANTS SEMDJL1 GLY-65; LEU-67; ALA-79; ASN-156; CYS-232; TRP-256 AND SER-300; CHARACTERIZATION OF VARIANTS EDSSPD2 TRP-6; LEU-186; HIS-207; SER-217 AND THR-309;

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.
Ritelli M.; Chiarelli N.; Zoppi N.; Dordoni C.; Quinzani S.; Traversa M.; Venturini M.; Calzavara-Pinton P.; Colombi M.;
Mol. Genet. Metab. Rep. 2:1-15(2015)
Cited for: VARIANT SEMDJL1 TRP-256;

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.