UGT1A1 G211A - GET-Evidence

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

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Curation:
Currentness:

UGT1A1 G211A

(UGT1A1 Gly211Ala)


Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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 (37 hits -- see all)
  • UGT1A1 [PharmGKB]
    UGT1A1 is one of 9 isozymes encoded by the UGT1A locus, a superfamily of Phase II drug ... UGT1A1*6; UGT1A1:G211A; UGT1A1: G71R. Evidence: PMID:15179404. PMID: ...
    www.pharmgkb.org/do/serve?objId=PA420&objCls=Gene
  • Hyperbilirubinemia Genetics - Findings from National ...
    NewsRx is the leading source of news and information on Hyperbilirubinemia Genetics ... the UGT1A1 single nucleotide polymorphism G211A using real-time PCR with Taqman minor ...
    newsrx.com/newsletters/.../2007-06-27/906272007197MDB.html
  • UGT1A6 [PharmGKB]
    93 is a common variant of UGT1A1 in Caucasian and African-American populations. ... The *27 variant form of UGT1A1 has very low activity in vitro, so is likely to ...
    pharmgkb.org/do/serve?objCls=Gene&objId=PA37181&tabType=12
  • Coexpression of Gene Polymorphisms Involved in Bilirubin ...
    UGT1A1 coding sequence variants were infrequent and limited to ... evidence lower UGT1A1 transcriptional activity.18,21,26,45 The G211A missense UGT1A1 coding sequence mutation ...
    pediatrics.aappublications.org/cgi/content/full/122/1/e156
  • Common variants of four bilirubin metabolism genes and their ...
    Only three genetic variants - rs4399719 (UGT1A1 T-2473G), rs887829 (UGT1A1 G-364A), and rs4148323 (UGT1A1 G211A) - were associated with TBIL levels (each P<0.001) ...
    cat.inist.fr/?aModele=afficheN&cpsidt=21365963
  • Breast Milk Jaundice: eMedicine Pediatrics: Cardiac Disease ...
    Overview: Arias first described breast milk jaundice (BMJ) in 1963. Breast milk jaundice ... UGT1A1 activity. Similarly, mutations in the coding region of the UGT1A1 (eg, G211A, ...
    emedicine.medscape.com/article/973629-overview
  • Irinotecan cytotoxicity does not necessarily depend on the ...
    UGT1A1 activity most commonly arises from poly- morphisms in the UGT1A1 promoter region ... involved the binding of the two primers specific to G211A ...
    spandidos-publications.com/serveFile/or_16_5_971_PDF.pdf?...
  • Identification of a defect in the UGT1A1 gene promoter and ...
    The UDP-glucuronosyltransferase UGT1A1 plays a critical role in the detoxification of ... were double heterozygotes for the T-3263G and G211A mutations. ...
    www.ncbi.nlm.nih.gov/pubmed/11906189
  • Regular Article Urinary Excretion of Phenytoin Metabolites, 5 ...
    UGT1A1*28, UGT1A1*60 and UGT1A6*2 alleles were found in 1, 3, 6, and 8 patients, ... UGT1A1*6 (G211A, Gly71Arg), UGT1A1*7 (T1456G, Tyr486Asp), and UGT1A1 ...
    www.p.kanazawa-u.ac.jp/~taisha/DMPK2005_135.pdf
  • Hyperbilirubinemia :: genetics
    BioInfoBank Library :: Hyperbilirubinemia :: genetics :: Single hepatic venous injection of liver-specific naked plasmid vector expressing human UGT1A1 leads to long ...
    lib.bioinfo.pl/meid:30240

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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