Variant position: 277 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 335 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 AVALPLLLDKPNAQFDSTAP RGHLESSLLSHLVDPKDLEPR
Mouse AVALPLLLAKPNAQFDATAP RGHLESSLLSHLVDPKDLEPR
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 – 335 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3
29 – 335 Lumenal
281 – 281 Proton donor/acceptor
281 – 281 E -> A. Absence of enzymatic activity in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA). Does not increase PXYLP1-induced 2-phosphoxylose phosphatase activity in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA).
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
Baasanjav S.; Al-Gazali L.; Hashiguchi T.; Mizumoto S.; Fischer B.; Horn D.; Seelow D.; Ali B.R.; Aziz S.A.; Langer R.; Saleh A.A.; Becker C.; Nurnberg G.; Cantagrel V.; Gleeson J.G.; Gomez D.; Michel J.B.; Stricker S.; Lindner T.H.; Nurnberg P.; Sugahara K.; Mundlos S.; Hoffmann K.;
Am. J. Hum. Genet. 89:15-27(2011)
Cited for: SUBCELLULAR LOCATION; VARIANT JDSCD GLN-277; CHARACTERIZATION OF VARIANT JDSCD GLN-277; INVOLVEMENT IN JDSCD;
Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.
von Oettingen J.E.; Tan W.H.; Dauber A.;
Am. J. Med. Genet. A 164A:1580-1586(2014)
Cited for: VARIANT JDSCD GLN-277;
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