IDS R443X - GET-Evidence

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

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Curation:
Currentness:

IDS R443X

(IDS Arg443Stop)


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
 

    Web search results (13 hits -- see all)
  • Mutation analysis in 57 unrelated patients with MPS II ...
    Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease) ... to confirm the predicted effects on the IDS mRNA suggested by genomic analysis. ...
    www.ncbi.nlm.nih.gov/pubmed/9875019
  • EC 3.1.6.13 - iduronate-2-sulfatase
    R443X. Homo sapiens. the mutation produces truncated protein lacking 20% of the IDS protein, ... patients with mutations in the IDS gene leading to mucopolysaccharidosis type II. ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=3.1.6.13
  • Mutation analysis in 57 unrelated patients with MPS II ...
    ... described mutations present in these patients were Q80X, P86L, R172X, G374G, S333L, R443X, and R468Q. ... the predicted effects on the IDS mRNA suggested by genomic analysis. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1717680
  • 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
  • ESHG Posters 13
    Phenylketonuria (PKU) is a metabolic genetic disease, in which the phenylalanine hydroxylase (PAH) gene is ... R443X, int1/ex2 a->g, ex4/int4 g->a, ex6/int6 g->a, complete IDS ...
    www.medacad.org/eshg/abstracts/posters13.htm
  • 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 ... phenotype, R88H, N265I, W337R, and R443X; severe phenotype, L41P, P86L, P86R, ...
    www.tfrd.org.tw/upload/manual/aca/dissertation3-2.pdf
  • PA-8000 Supplement to FTX Continuum 400 Series Technical ...
    The following table lists the marketing IDs of the PA-7100 to PA-8000 ... Continuum 400 Series: Installation Guide (R443X) FTX Continuum 400 Series: Operation and ...
    stratus.ecacsupport.com/.../pdf/ftx 400 (8000).pdf
  • PubMed: 9875019
    PMID: 9875019 Authors: Vafiadaki E, Cooper A, Heptinstall LE, Hatton ... to confirm the predicted effects on the IDS mRNA suggested by genomic analysis. ...
    www.genome.jp/dbget-bin/www_bget?pubmed+9875019
  • UNIVERSITA' DEGLI STUDI DI PADOVA
    è una ricombinazione omologa intracromosomica tra gene hIDS e pseudogene IDS-2. ... homologous recombination event between IDS and IDS-2 sequences. ...
    paduaresearch.cab.unipd.it/1071/2/tesi_phD_AZ.pdf
  • Scientific Commons: I. Maire
    Iduronate 2-sulphatase (IDS) is a lysosomal enzyme involved in degradation of ... germline and somatic mosaicism in the patient's mother: the R443X mutation was found in a...
    en.scientificcommons.org/i_maire

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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