IDS S333L - GET-Evidence

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(IDS Ser333Leu)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • Score: 0.916 (probably damaging)
    Web search results (21 hits -- see all)
  • BioPortfolio - IDS - iduronate 2-sulfatase (Hunter syndrome)
    IDS - iduronate 2-sulfatase (Hunter syndrome) - Bioportfolio ... and age of onset by 3 years of age had four IDS amino acid substitutions S333L,C53X,E341K, and P480R. ...
  • Analysis of normal and mutant iduronate-2-sulphatase conformation
    The antigenicity of native IDS was higher in regions without glycosylation, but ... IDS is a lysosomal sulphatase that is involved in the catabolism of ...
  • Mutations in the iduronate-2-sulfatase gene in five ...
    Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter ... point mutations were identified, the S333L mutation, which has been reported ...
  • Mutation analysis in 57 unrelated patients with MPS II ...
    Vafiadaki, E; Cooper, A; Heptinstall, L E; Hatton, C E; Thornley, M; Wraith, J E ... are needed to confirm the predicted effects on the IDS mRNA suggested by genomic analysis. ...
  • EC - iduronate-2-sulfatase
    Information on EC - iduronate-2-sulfatase ... with mutations in the IDS gene leading to mucopolysaccharidosis type II. Structural alteration in the IDS protein results ...
  • Det medisinske fakultet - 1996
    UiB-Med: Avdeling for mikrobiologi og immunologi, Gades institutt (og ... II. Immunohistochemical characterization of resident and infl iltrating cells. ...
  • Institutt for biokjemi og molekylærbiologi - 1996
    1 Bøker, lærebøker eller andre selvstendige utgivelser INSTIT.: UiB-Med: Institutt for ... (IDS) gene of five unrelated Norwegians with Hunter syndrome by ...
  • 國立臺灣師範大學生命科學系博士論文 人類遺傳疾病
    Expression and uptake of PEIa-IDS and IDS-PEIa recombinant proteins.19 ... 959delT, R88P, S333L, W345X, K347T, R468Q, R468L, G489A, 473delTCC, and ...
  • Type I- 99%
    ... belgian patient PRB2 P02812 S274P 274 VAR_019695 CK1 (0.632) Con1-, abolishes the glycosylation site at ... Polymorphism (dbSNP:rs28364953) IDS P22304 S333L 333 VAR_007360 IKK ...
  • Type I- 95%
    ... III deficiency, type-I 10997988 IDS P22304 Y348H 348 VAR_007368 PDGFR ... cancer sample, somatic mutation 16959974 IDS P22304 S333L 333 VAR_007360 CAMKL (0.576) ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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