IDS R468Q - GET-Evidence

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

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Curation:
Currentness:

IDS R468Q

(IDS Arg468Gln)


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: 0.988 (probably damaging)
    Web search results (42 hits -- see all)
  • Molecular basis of iduronate-2-sulphatase gene mutations in ...
    To detect IDS gene mutations, direct sequencing of IDS cDNA fragments coupled ... R468Q, R468W, and 438C/T found no polymorphism for the four missense mutations ...
    www.ncbi.nlm.nih.gov/pubmed/9950361
  • Expression of five iduronate-2-sulfatase site-directed mutations.
    Department of Biochemistry and Medical Biotechnologies, Medical ... R88P, T118I, 959delT, R468Q) previously identified in the iduronate-2-sulfatase (IDS) gene of Italian Hunter ...
    www.ncbi.nlm.nih.gov/pubmed/10838181
  • 國立臺灣師範大學生命科學系博士論文 人類遺傳疾病
    Part I: Molecular and genetic studies of the IDS gene associated with ... The drastic effect of R468W and R468Q mutations on IDS processing and/or ...
    www.tfrd.org.tw/upload/manual/aca/dissertation3-2.pdf
  • Mendelian Inheritance in Man Document Reader
    The IDS gene is mapped to Xq28, distal to the fragile X site (Wilson et al., 1993) ... The common R468Q mutation was identified in the IDS gene. RT-PCR showed her cDNA to ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+309900
  • Human group-specific component. Changes in electrophoretic ...
    Evaluation of the IDS activity of two hemizygous variants identified ... the same patient, p.R101C and p.R468Q, by expression of IDS with the individual mutations ...
    lib.bioinfo.pl/pmid:77859
  • EC 3.1.6.13 - iduronate-2-sulfatase
    R468Q. Homo sapiens. mutations identified in Taiwanese patients with ... IDS gene leading to mucopolysaccharidosis type II. Structural alteration in the IDS ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=3.1.6.13
  • 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
  • Iduronate 2-sulfatase precursor - Homo sapiens (Human)
    Defects in IDS are the cause of mucopolysaccharidosis type 2 (MPS2) ... "Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and ...
    www.uniprot.org/uniprot/P22304
  • abstract-all
    Evaluation of the IDS activity of two hemizygous variants identified ... IDS with the individual mutations in COS 7 cells indicated that only the p.R468Q mutation affected IDS ...
    med.cmu.ac.th/dept/pediatrics/.../abstract-all.htm
  • HMDB: Showing Dermatan (HMDB00632)
    ... sulfatase deficiency; Ids deficiency; Sulfoiduronate sulfatase deficiency; Sids ... a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed ...
    www.hmdb.ca/metabolites/HMDB00632

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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