IDS R468L - GET-Evidence

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

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Curation:
Currentness:

IDS R468L

(IDS Arg468Leu)


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: 0.999 (probably damaging)
    Web search results (11 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    The IDS gene is mapped to Xq28, distal to the fragile X site (Wilson et al. ... Various mutations in the IDS gene have been identified (Hopwood et al. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+309900
  • EC 3.1.6.13 - iduronate-2-sulfatase
    Information on EC 3.1.6.13 - iduronate-2-sulfatase ... of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations. ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=3.1.6.13
  • 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
  • Effect of Hunter disease (mucopolysaccharidosis type II ...
    Mucopolysaccharidosis II (Hunter disease), a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS), has variable clinical phenotypes.
    www.medscape.com/medline/abstract/17091340?prt=true
  • OMIM: 309900
    The sister was heterozygous for the R468L mutation in genomic DNA, but homozygous for the ... The IDS cDNA detected structural alterations or gross deletions of the IDS gene ...
    www.genome.jp/htbin/www_bget?omim+309900
  • Kuwata, K (K)
    Kuwata, K (K) :: Hemangioma of the liver. Diagnosis with combined use of laparoscopy and ... by a deficiency of iduronate-2-sulfatase (IDS), has variable clinical phenotypes. ...
    lib.bioinfo.pl/auid:313416
  • Scoring Clinical Functions in Subacute Sclerosing Panencephalitis.
    BioInfoBank Library :: Scoring Clinical Functions in Subacute Sclerosing Panencephalitis. Thyroid cancer in a case with the Alagille syndrome. Interstitial deletion ...
    lib.bioinfo.pl/pmid:19386736
  • 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
  • PAEDIATRIA CROATICA - Mukopolisaharidoze – genska i ...
    PAEDIATRIA CROATICA [Hrvatski pedijatrijski časopis] ... i p a i f e n o t i p a Gen IDS smješten je na dugom kraku kromosoma X (Xq28) a kodira iduronat- 2-sulfatazu, ...
    www.paedcro.com/clanak.asp?id=320

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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