Variant position: 165 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 LEEKEVCRLEYRFGEFGNYS LLVKNIHNGVSEIACDLAVNE
Mouse SEERAACRLEYKFGEFGNYS LLVQHASSGANKIACDIIVNE
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
162 – 162 N-linked (GlcNAc...) asparagine
151 – 462
151 – 151 C -> S. Loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation.
179 – 179 C -> S. Loss of intralysosomal proteolytic cleavage and enzymatic activity.
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
Feldhammer M.; Durand S.; Pshezhetsky A.V.;
PLoS ONE 4:E7434-E7434(2009)
Cited for: FUNCTION; GLYCOSYLATION; CHARACTERIZATION OF VARIANT MPS3C THR-643; CHARACTERIZATION OF VARIANTS PHE-104; PRO-165; GLN-265; ARG-290; LYS-301; LEU-311; HIS-372; CYS-431; SER-452; LYS-499; LEU-509; LYS-510; GLU-517; PHE-546; GLN-551; CYS-567; LEU-569; VAL-590 AND LEU-599;
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.
Fedele A.O.; Filocamo M.; Di Rocco M.; Sersale G.; Luebke T.; di Natale P.; Cosma M.P.; Ballabio A.;
Hum. Mutat. 28:523-523(2007)
Cited for: VARIANTS MPS3C PRO-165 AND PHE-546; VARIANT GLN-265;
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
Ruijter G.J.G.; Valstar M.J.; van de Kamp J.M.; van der Helm R.M.; Durand S.; van Diggelen O.P.; Wevers R.A.; Poorthuis B.J.; Pshezhetsky A.V.; Wijburg F.A.;
Mol. Genet. Metab. 93:104-111(2008)
Cited for: VARIANTS MPS3C PRO-165; ARG-280; LYS-301; CYS-372; LYS-499; PHE-546 AND CYS-567; VARIANT GLN-265;
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
Feldhammer M.; Durand S.; Mrazova L.; Boucher R.-M.; Laframboise R.; Steinfeld R.; Wraith J.E.; Michelakakis H.; van Diggelen O.P.; Hrebicek M.; Kmoch S.; Pshezhetsky A.V.;
Hum. Mutat. 30:918-925(2009)
Cited for: VARIANTS MPS3C PRO-165; LEU-311; CYS-372; CYS-431; LYS-499; GLU-514; GLU-517; PHE-546; LEU-569 AND THR-643; VARIANTS GLN-265; LEU-509 AND GLN-551; CHARACTERIZATION OF VARIANTS MPS3C CYS-431 AND THR-643; CHARACTERIZATION OF VARIANTS GLN-265; LEU-509 AND GLN-551;
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).
Fedele A.O.; Hopwood J.J.;
Hum. Mutat. 31:E1574-E1586(2010)
Cited for: CHARACTERIZATION OF VARIANTS MPS3C PHE-104; PRO-165; ARG-290; LEU-311; CYS-372; CYS-431; SER-452; LYS-499; LYS-510; GLU-514; GLU-517; PHE-546; CYS-567; LEU-569; VAL-590; LEU-599 AND THR-643; CHARACTERIZATION OF VARIANTS GLN-265; LEU-509 AND GLN-551;
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.