IDS S333L - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

IDS S333L

(IDS Ser333Leu)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • 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. ...
    www.bioportfolio.com/gene/3423-IDS.html
  • 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 ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1134805
  • 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 ...
    www.ncbi.nlm.nih.gov/pubmed/8566953
  • 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. ...
    adc.bmj.com/content/79/3/237.abstract
  • EC 3.1.6.13 - iduronate-2-sulfatase
    Information on EC 3.1.6.13 - iduronate-2-sulfatase ... with mutations in the IDS gene leading to mucopolysaccharidosis type II. Structural alteration in the IDS protein results ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=3.1.6.13
  • Det medisinske fakultet - 1996
    UiB-Med: Avdeling for mikrobiologi og immunologi, Gades institutt (og ... II. Immunohistochemical characterization of resident and infl iltrating cells. ...
    www.fou.uib.no/publ/96full/Aarsmelding/UiB-Med0.html
  • 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 ...
    www.fou.uib.no/publ/96full/Aarsmelding/49.html
  • 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 ...
    www.tfrd.org.tw/upload/manual/aca/dissertation3-2.pdf
  • 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 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_99.txt
  • 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) ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in