Variant position: 152 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 STQHGSILQLNDTLEEKEVC RLEYRFGEFGNYSLLVKNIHN
Mouse STQHGSILQVNSTSEERAAC RLEYKFGEFGNYSLLVQHASS
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
162 – 162 N-linked (GlcNAc...) asparagine
151 – 462
151 – 151 C -> S. Loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation.
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Haer-Wigman L.; Newman H.; Leibu R.; Bax N.M.; Baris H.N.; Rizel L.; Banin E.; Massarweh A.; Roosing S.; Lefeber D.J.; Zonneveld-Vrieling M.N.; Isakov O.; Shomron N.; Sharon D.; Den Hollander A.I.; Hoyng C.B.; Cremers F.P.; Ben-Yosef T.;
Hum. Mol. Genet. 24:3742-3751(2015)
Cited for: INVOLVEMENT IN RP73; VARIANTS RP73 TRP-152; ALA-161 AND THR-643; CHARACTERIZATION OF VARIANT RP73 THR-643;
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.