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:
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 KQSLEDMLEKHATLAREGRL CKREVQLRLSYVYDWSAPPSQ
Mouse KQSPEDMLEKQQMLLHEGRL CKHEVQLRLSYVYDWSAPPSQ
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
1 – 329 Beta-1,3-galactosyltransferase 6
35 – 329 Lumenal
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;
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.