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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P54802: Variant p.Tyr140Cys

Alpha-N-acetylglucosaminidase
Gene: NAGLU
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Variant information Variant position: help 140 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Tyrosine (Y) to Cysteine (C) at position 140 (Y140C, p.Tyr140Cys). 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: help Change from large size and aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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: help In MPS3B. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 140 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 743 The length of the canonical sequence.
Location on the sequence: help ELTEATPNRYRYYQNVCTQS Y SFVWWDWARWEREIDWMALN 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.
Sequence annotation in neighborhood: help 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 24 – 743 Alpha-N-acetylglucosaminidase 82 kDa form
Chain 59 – 743 Alpha-N-acetylglucosaminidase 77 kDa form
Helix 137 – 140



Literature citations
Genotype-phenotype correspondence in Sanfilippo syndrome type B.
Zhao H.G.; Aronovich E.L.; Whitley C.B.;
Am. J. Hum. Genet. 62:53-63(1998)
Cited for: VARIANTS MPS3B CYS-140; CYS-455; LEU-521; GLY-612; CYS-674 AND HIS-674; NAGLU mutations underlying Sanfilippo syndrome type B.
Schmidtchen A.; Greenberg D.; Zhao H.G.; Li H.H.; Huang Y.; Tieu P.; Zhao H.-Z.; Cheng S.; Zhao Z.; Whitley C.B.; di Natale P.; Neufeld E.F.;
Am. J. Hum. Genet. 62:64-69(1998)
Cited for: VARIANTS MPS3B HIS-92; SER-115; CYS-140; LYS-153; LEU-358; VAL-664 AND ARG-682; Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
Beesley C.E.; Young E.P.; Vellodi A.; Winchester B.G.;
J. Med. Genet. 35:910-914(1998)
Cited for: VARIANTS MPS3B CYS-48; CYS-140; CYS-234; ARG-268; LEU-521; TRP-565; PRO-591 AND LYS-705; Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.
Bunge S.; Knigge A.; Steglich C.; Kleijer W.J.; van Diggelen O.P.; Beck M.; Gal A.;
J. Med. Genet. 36:28-31(1999)
Cited for: VARIANTS MPS3B CYS-79; ARG-100; CYS-140; PHE-142 DEL; LEU-243; PHE-277; PRO-280; ARG-292; LYS-452; TRP-482; ARG-561; GLN-565; HIS-674 AND LYS-705; VARIANT GLY-737; Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.
Tessitore A.; Villani G.R.D.; Di Domenico C.; Filocamo M.; Gatti R.; Di Natale P.;
Hum. Genet. 107:568-576(2000)
Cited for: VARIANTS MPS3B PHE-35; ASP-82; CYS-140; CYS-156; CYS-234; ARG-292; GLY-501; TRP-520; TYR-534 AND CYS-649; CHARACTERIZATION OF VARIANTS MPS3B PHE-35; ASP-82; CYS-156; GLY-501; TRP-520; TYR-534 AND CYS-649; Sanfilippo B syndrome: molecular defects in Greek patients.
Beesley C.; Moraitou M.; Winchester B.; Schulpis K.; Dimitriou E.; Michelakakis H.;
Clin. Genet. 65:143-149(2004)
Cited for: VARIANTS MPS3B CYS-140; PRO-242; ARG-292; ARG-414; LYS-446; LYS-452; GLN-482 AND LEU-516; CHARACTERIZATION OF VARIANTS MPS3B PRO-242; ARG-414; LYS-446; GLN-482 AND LEU-516;
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.