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UniProtKB/Swiss-Prot Q96L58: Variant p.Cys300Ser

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

Variant position:  300
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 Cysteine (C) to Serine (S) at position 300 (C300S, p.Cys300Ser).
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 medium size and polar (C) to small size and polar (S)
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:  In SEMDJL1; loss of galactosylxylosylprotein 3-beta-galactosyltransferase activity; normal Golgi apparatus subcellular localization.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  300
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:   KQSLEDMLEKHATLAREGRL  C KREVQLRLSYVYDWSAPPSQ
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                         KQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQ

Mouse                         KQSPEDMLEKQQMLLHEGRLCKHEVQLRLSYVYDWSAPPSQ

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

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Nakajima M.; Mizumoto S.; Miyake N.; Kogawa R.; Iida A.; Ito H.; Kitoh H.; Hirayama A.; Mitsubuchi H.; Miyazaki O.; Kosaki R.; Horikawa R.; Lai A.; Mendoza-Londono R.; Dupuis L.; Chitayat D.; Howard A.; Leal G.F.; Cavalcanti D.; Tsurusaki Y.; Saitsu H.; Watanabe S.; Lausch E.; Unger S.; Bonafe L.; Ohashi H.; Superti-Furga A.; Matsumoto N.; Sugahara K.; Nishimura G.; Ikegawa S.;
Am. J. Hum. Genet. 92:927-934(2013)
Cited for: FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; INVOLVEMENT IN SEMDJL1; INVOLVEMENT IN EDSSPD2; VARIANTS SEMDJL1 GLY-65; LEU-67; ASN-156; CYS-232 AND SER-300; VARIANTS EDSSPD2 TRP-6; 139-MET--ALA-141 DEL AND THR-309; CHARACTERIZATION OF VARIANTS SEMDJL1 GLY-65; LEU-67; ASN-156; CYS-232 AND SER-300;

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;

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.