UGT1A1 Y486D - GET-Evidence

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

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UGT1A1 Y486D

(UGT1A1 Tyr486Asp)


You are viewing the latest version of this page, saved on January 5, 2010 at 10:42pm by OMIM Importing Robot.

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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 (182 hits -- see all)
  • Contribution of two missense mutations (G71R and Y486D) of ...
    Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome ...
    www.ncbi.nlm.nih.gov/pubmed/9630669
  • UGT1A1 allele nomenclature
    UGT1A1*4. UGT1A1.4. 1069(C>T) Q357X. 3. CN1. Inactive. Inactive. Bosma PJ, UGT1A1*5. UGT1A1.5. 991 ... UGT1A1.7. 1456(T>G) Y486D. 5. CN2. Reduced. Reduced. Aono S, UGT1A1*8 ...
    pharmacogenomics.pha.ulaval.ca/webdav/.../UGT1A/UGT1A1.htm
  • Comprehensive UGT1A1 Genotyping in a Japanese Population by ...
    Comprehensive UGT1A1 Genotyping in a Japanese Population by Pyrosequencing ... of irinotecan (CPT-11), by human UGT1A1 variants, G71R, P229Q, and Y486D. ...
    www.clinchem.org/cgi/content/full/49/7/1182
  • Prolonged Unconjugated Hyperbilirubinemia Associated With Breast
    gene (UGT1A1) in patients with hereditary unconjugated. hyperbilirubinemia (Crigler-Najjar ... two missense mutations (G71R and Y486D) of the UGT1A1 gene to ...
    pediatrics.aappublications.org/cgi/reprint/106/5/e59.pdf
  • 1182
    Of the UGT1A isoforms, UGT1A1 is primarily respon- sible for the glucuronidation of ... for Y486D compared with that of the wild type (10 ). Recently, a ...
    www.clinchem.org/cgi/reprint/49/7/1182.pdf
  • Dumont, A (Agn├Ęs)
    Relevance of different UGT1A1 polymorphisms in irinotecan-induced toxicity: a molecular ... RESULTS: No G71R and Y486D mutations were found in our population. ...
    lib.bioinfo.pl/auid:34119
  • Prolonged Unconjugated Hyperbilirubinemia Associated With ...
    Here, we analyzed UGT1A1 in Japanese infants with the prolonged unconjugated ... T Contribution of two missense mutations (G71R and Y486D) of the UGT1A1 gene ...
    pediatrics.aappublications.org/cgi/content/full/106/5/e59
  • PHARMACOGENETICS OF URIDINE DIPHOSPHOGLUCURONOSYLTRANSFERASE ...
    UGT1A1 catalyzes the glucuronidation and detoxification of bilirubin, ... transporter and enzyme genes, including UGT1A1 *7 (Y486D) and *28, and UGT1A1 ...
    www.temple.edu/pharmacy/Nagar_Irinotecan_review.pdf
  • Gilbert's syndrome is caused by a heterozygous missense ...
    Glucuronidation of 7-Ethyl-10-hydroxycamptothecin (SN-38), an Active Metabolite of Irinotecan (CPT-11), by Human UGT1A1 Variants, G71R, P229Q, and Y486D. Drug Metab. ...
    hmg.oxfordjournals.org/cgi/content/abstract/4/7/1183
  • Prolonged unconjugated hyperbilirubinemia associated with ...
    OBJECTIVE: Breast milk jaundice is a common problem in nursing infants. ... and it corresponds to a UGT1A1 polymorphism in the Japanese population (the allele frequency is.16) ...
    www.medscape.com/medline/abstract/11061796

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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