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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P22304: Variant p.Ala85Thr

Iduronate 2-sulfatase
Gene: IDS
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Variant information Variant position: help 85 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 Alanine (A) to Threonine (T) at position 85 (A85T, p.Ala85Thr). 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 small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 MPS2; mild to severe forms. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 85 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 550 The length of the canonical sequence.
Location on the sequence: help DQLASHSLLFQNAFAQQAVC A PSRVSFLTGRRPDTTRLYDF 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         DQLASHSLLFQNAFAQQAVCAPSRVSFLTGRRPDTTRLYDF

Mouse                         DQLASHSVLFQNAFAQQAVCAPSRVSFLTGRRPDTTRLYDF
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 34 – 455 Iduronate 2-sulfatase 42 kDa chain
Active site 84 – 84 Nucleophile
Binding site 84 – 84 via 3-oxoalanine
Modified residue 84 – 84 3-oxoalanine (Cys)
Helix 84 – 93



Literature citations
Mucopolysaccharidosis type II (Hunter syndrome): mutation 'hot spots' in the iduronate-2-sulfatase gene.
Rathmann M.; Bunge S.; Beck M.; Kresse H.; Tylki-Szymanska A.; Gal A.;
Am. J. Hum. Genet. 59:1202-1209(1996)
Cited for: VARIANTS MPS2 ASP-63; THR-85; GLN-86; CYS-88; HIS-88; CYS-108; SER-117 DEL; VAL-125; ARG-134; PHE-184; ASN-252; LEU-333; ILE-347; ARG-403 AND GLN-468; Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.
Froissart R.; Maire I.; Millat G.; Cudry S.; Birot A.-M.; Bonnet V.; Bouton O.; Bozon D.;
Clin. Genet. 53:362-368(1998)
Cited for: VARIANTS MPS2 ASN-71; SER-85; THR-85; LEU-86; GLY-88; HIS-88; PHE-89; SER-108; SER-117 DEL; ILE-118; ARG-121; ASP-138; HIS-148; ARG-229; LEU-333; ASN-334; ARG-335; GLU-336; ARG-339; ARG-403; LEU-467; GLN-468; TRP-468; ARG-480; GLN-480; LEU-480 AND SER-490; Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.
Gort L.; Coll M.J.; Chabas A.;
Hum. Mutat. Suppl. 1:S66-S68(1998)
Cited for: VARIANTS MPS2 THR-85; HIS-88; ILE-349 AND VAL-521; Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
Isogai K.; Sukegawa K.; Tomatsu S.; Fukao T.; Song X.-Q.; Yamada Y.; Fukuda S.; Orii T.; Kondo N.;
J. Inherit. Metab. Dis. 21:60-70(1998)
Cited for: VARIANTS MPS2 PRO-48; THR-85; LEU-86; PRO-182; SER-196; ASP-225; MET-227; ASN-308; PRO-314; LEU-333; ARG-337; ILE-349; GLN-468; LEU-468 AND TRP-468; Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
Li P.; Bellows A.B.; Thompson J.N.;
J. Med. Genet. 36:21-27(1999)
Cited for: VARIANTS MPS2 ARG-71; GLU-82; THR-85; CYS-88; ARG-95 DEL; GLN-468; TRP-468 AND VAL-521;
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.