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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96L58: Variant p.Ser309Thr

Beta-1,3-galactosyltransferase 6
Gene: B3GALT6
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Variant information Variant position: help 309
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Threonine (T) at position 309 (S309T, p.Ser309Thr).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (T)
BLOSUM score: help 1
Variant description: help In EDSSPD2; normal Golgi apparatus subcellular localization.
Other resources: help


Sequence information Variant position: help 309
Protein sequence length: help 329
Location on the sequence: help KHATLAREGRLCKREVQLRL S YVYDWSAPPSQCCQRREGIP
Residue conservation: help
Human                         KHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP

Mouse                         KQQMLLHEGRLCKHEVQLRLSYVYDWSAPPSQCCQRKEGVP

Sequence annotation in neighborhood: help
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.