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UniProtKB/Swiss-Prot Q68CP4: Variant p.Met510Lys

Heparan-alpha-glucosaminide N-acetyltransferase
Gene: HGSNAT
Variant information

Variant position:  510
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Methionine (M) to Lysine (K) at position 510 (M510K, p.Met510Lys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and hydrophobic (M) to large size and basic (K)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum.
Any additional useful information about the variant.



Sequence information

Variant position:  510
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:   YHTEVAYDPEGILGTINSIV  M AFLGVQAGKILLYYKARTKD
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                         YHTEVAYDPEGILGTINSIVMAFLGVQAGKILLYYKARTKD

Mouse                         YHTEVAYDPEGVLGTINSIVMAFLGVQAGKILVYYKDQTKA

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.

TypePositionsDescription
Chain 1 – 663 Heparan-alpha-glucosaminide N-acetyltransferase
Transmembrane 501 – 521 Helical


Literature citations

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;

Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
Hrebicek M.; Mrazova L.; Seyrantepe V.; Durand S.; Roslin N.M.; Noskova L.; Hartmannova H.; Ivanek R.; Cizkova A.; Poupetova H.; Sikora J.; Urinovska J.; Stranecky V.; Zeman J.; Lepage P.; Roquis D.; Verner A.; Ausseil J.; Beesley C.E.; Maire I.; Poorthuis B.J.H.M.; van de Kamp J.; van Diggelen O.P.; Wevers R.A.; Hudson T.J.; Fujiwara T.M.; Majewski J.; Morgan K.; Kmoch S.; Pshezhetsky A.V.;
Am. J. Hum. Genet. 79:807-819(2006)
Cited for: VARIANTS MPS3C PHE-104; LEU-311; CYS-372; HIS-372; CYS-431; SER-452; LYS-499; LYS-510; LEU-569; VAL-590; LEU-599 AND THR-643; VARIANTS GLN-265 AND GLN-551; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;

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;

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.