UGT1A1 L15R - GET-Evidence

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

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Curation:
Currentness:

UGT1A1 L15R

(UGT1A1 Leu15Arg)


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 (12 hits -- see all)
  • UGT1A1 allele nomenclature
    Y486D. 5. CN2. Reduced. Reduced. Aono S, UGT1A1*8. UGT1A1.8. 625(C>T) R209W. 1. CN2 ... UGT1A1*30. UGT1A1.30. 44(T>G) L15R. 1. CN2. Reduced. Reduced. Seppen J, ...
    pharmacogenomics.pha.ulaval.ca/webdav/.../UGT1A/UGT1A1.htm
  • Background Document on the UGT1A1 Polymorphisms and ...
    pharmacogenomics component examining UGT1A1 and other factors ... T G L15R. Missense. 1. UGT1A1*31 11609. CC GT P387R. 2nt. miss. 4. UGT1A1*32 1006. C T R336W ...
    fda.gov/ohrms/.../briefing/2004-4079B1_07_Pfizer-UGT1A1.pdf
  • OMIM: 191740
    UGT1A1 was expressed highly in liver, moderately in regions of small intestine and rectum, ... for a leu15-to-arg (L15R) substitution in the UGT1A1 gene. ...
    www.genome.jp/dbget-bin/www_bget?mim:191740
  • UDP-G
    olized to an acyl-O-glucuronide, is selectively glucuronidated by UGT1A1. ... L15R. Missense. 1. CN2. 118. UGT1A1*31 11609 CCrGT P387R. 2 nt missense. 4 ...
    www99.mh-hannover.de/kliniken/gastro/strassbu/pharmtox.pdf
  • 20
    gene is named UGT1A1, and the expressed isoform is termed UGT1A1. ... As UGT1A1 (bilirubin-UGT1) is the only isoform that. contributes significantly to ...
    www.gastrohep.com/theliver/20ARIAS020.pdf
  • Molecular pathology of Crigler-Najjar type I and II and ...
    L15R. G71R. W209R. G211R. E331R. L395P. Y486D. G70R. G71R. P228Q. R366G. R367G ... UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a. balanced polymorphism for regulation ...
    www.haematologica.org/cgi/reprint/84/2/150.pdf
  • Yoshikazu Emi_7D
    その結果、Gunnラットの変異型UGT1A1は50分の半減期で速やかに分解されていることが分かった。 ちなみに正常型UGT1A1の細胞内での半減期はおよそ10時間である。 ... 緑で示すL15R(15番目のロイシンコドンの一塩基置換によりリジンのコドンに変異したもの)を取り上げ、これらのUGT1A1変異体をCOS ...
    g-transfer.hustle.ne.jp/a-site/.../ugt/localization.html
  • Function and regulation of UDP-glucuronosyltransferase genes ...
    UDP-glucuronosyltransferase form 1A1 (UGT1A1) is the only bilirubin-glucuronidating ... L15R/1A1 was synthesized in similar amounts to wild-type UGT1A1 ...
    lib.bioinfo.pl/pmid:7982663
  • UGT1A9
    Scientific Experts, Genomes and Genes, Publications, Research Grants, Webpages, Research Topics about UGT1A9 ... and UGT1A9 polymorphisms to UGT1A1*6 is associated with reduced ...
    www.labome.org/gene/human/ugt1a9-54600.html
  • 3 Parties
    UGT1A1. TA mutations. 17 (Europe, Africa) Bilirubin glucuronidation. in promoter. 3 (Asia) ... OF MUTATIONS OF UGT1A1. Exon 1. Common exons 2 - 5. L15R. G70R. G71R. G71R ...
    gmp.asso.fr/Documents/Reunion mai 2002/GMPmai02Magdalou.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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