IDS R172X - GET-Evidence

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

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Curation:
Currentness:

IDS R172X

(IDS Arg172Stop)


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 (5 hits -- see all)
  • Molecular diagnosis of mucopolysaccharidosis type II (Hunter ...
    PCR amplicons representing the IDS cDNA were sequenced with an ... Non-sense mutations were identified in two patients: R172X (514C-->T, severe) and Q389X (1165C-->T, severe) ...
    www.ncbi.nlm.nih.gov/pubmed/7887413
  • 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
  • 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
  • Molecular diagnosis of mucopolysaccharidosis type II (Hunter ...
    PCR amplicons representing the IDS cDNA were sequenced with an ... Non-sense mutations were identified in two patients: R172X (514C-->T, severe) and Q389X (1165C-->T, severe) ...
    www.uniprot.org/citations/7887413

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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