IDUA A327P - GET-Evidence

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

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Curation:
Currentness:

IDUA A327P

(IDUA Ala327Pro)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • C @ chr4:996063: 0.0% (1/10732) in EVS
  • Frequency shown in summary reports: 0.0% (1/10732)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (6 hits -- see all)
  • Lysosomal Storage Diseases (LSDs)
    IDUA Enzyme Activity. IDUA Enzyme Activity. IDUA Mutations. IDUA Mutations. Q70X. Q70X. A75T ... A327P. A327P. L346R. L346R. D349Y. D349Y. N350I. N350I. T364M. T364M. T366P ...
    www.sfu.ca/biology/courses/bisc457/MPS Part-I.pdf
  • Pediatrik Bilimler Dergisi (Özel) - Molecular Analysis Of ...
    The IDUA gene is situated on chromosome 4p16.3 and extends approximately 19 kb. ... Italian population, 15% for Q70X;11% for A327P; 5,6% for P533R and 1.9 % for ...
    pediatrikbilimler.turkiyeklinikleri.com/abstract_42106.html
  • Genotype Frequencies in the MPS I Registry.
    Results: IDUA gene mutations were reported for 46% of Hurler, 44% of Hurler-Scheie, and 41% of Scheie ... Q70X (13%), P533R (7%), L490P (5%), A327P (3%), L218P and Q380R (2%) ...
    www.ashg.org/2008meeting/abstracts/fulltext/f20837.htm
  • Biochemical discrimination of Hurler and Scheie syndromes.
    BioInfoBank Library :: Biochemical discrimination of Hurler and Scheie syndromes. Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive ...
    lib.bioinfo.pl/pmid:38945
  • Presentación de un caso clínico de Mucopolisacaridosis Tipo ...
    p roteina IDUA pudo ser observada en la mutación. R 6 1 9 G. 1 3 . La presencia de la ... disequilibrium between IDUA kpnl-VNTR halotype in Mexi- can patients ...
    www.neurologia.org.mx/PDFrevista/2001/2_3/hurler.pdf
  • MPS I
    mãe de uma criança afetada são portadores assintomáticos da doença: ... A327P, P533R, A75T e L218P) que são associadas com MPS I neuronopática e são responsáveis ...
    www.genzyme.com.br/thera/az/br_pdf_mps_mono.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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