Variant position: 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 663 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 AGKPSAAAASVSTQHGSILQ LNDTLEEKEVCRLEYRFGEFG
Mouse PAKPSVAPVSVSTQHGSILQ VNSTSEERAACRLEYKFGEFG
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 – 663 Heparan-alpha-glucosaminide N-acetyltransferase
1 – 190 Lumenal, vesicle
142 – 142 N-linked (GlcNAc...) asparagine
151 – 151 C -> S. Loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation.
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
Canals I.; Elalaoui S.C.; Pineda M.; Delgadillo V.; Szlago M.; Jaouad I.C.; Sefiani A.; Chabas A.; Coll M.J.; Grinberg D.; Vilageliu L.;
Clin. Genet. 80:367-374(2011)
Cited for: VARIANTS MPS3C VAL-82; PRO-141; VAL-452 AND PRO-473; VARIANT GLN-265; CHARACTERIZATION OF VARIANTS MPS3C VAL-82; PRO-141; CYS-372; VAL-452; PRO-473 AND PHE-546; CHARACTERIZATION OF VARIANT GLN-265;
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.