AGXT P11L - GET-Evidence

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AGXT P11L

(AGXT Pro11Leu)


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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

  • T @ chr2:241808314: 15.3% (1640/10748) in EVS
  • T @ chr2:241456986: 14.2% (15/106) in GET-Evidence
  • Frequency shown in summary reports: 15.3% (1640/10748)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.997 (probably damaging)
    Web search results (96 hits -- see all)
  • Primary hyperoxaluria type 1 in the Canary Islands: A ...
    Synergistic Effect of P11L Polymorphism with I244T Is Crucial ... The interaction between P11L and Gly170Arg is central to the mistargeting of AGXT to the mitochondria (15) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC165866
  • PH1: conformational disease due to P11L + I244T :
    mutations @ AGXT. 15 families (18 patients) at least 8 from Gomera ... P11L has a significant conformation effect, which is magnified in *LTM. Chaperone ...
    niddk.nih.gov/fund/other/.../2003/Oxalosis/Salido.pdf
  • Primary hyperoxaluria type 1 in the Canary Islands: a ...
    ... mutation in the P11L-containing alanine:glyoxylate aminotransferase. ... within AGXT and regional microsatellites also were shared in their haplotypes (AGXT*LTM), consistent ...
    www.ncbi.nlm.nih.gov/pubmed/12777626
  • AGXT - alanine-glyoxylate aminotransferase - Genetics Home ...
    The AGXT gene is also known by other names, listed below. What is the normal function of ... The AGXT gene is located on the long (q) arm of chromosome 2 between ...
    ghr.nlm.nih.gov/gene=agxt
  • Alanine-glyoxylate aminotransferase (AGXT) - Medpedia
    The information on this page is seed content provided by an organization. Please help ... AGXT is the gene's official symbol. The AGXT gene is also known by other names, listed ...
    wiki.medpedia.com/Alanine-glyoxylate_aminotransferase_(AGXT)
  • Gene : AGXT
    AGXT. Name/description : alanine-glyoxylate aminotransferase. Synonyms : ... mutation in the P11L-containing alanine:glyoxylate aminotransferase. ...
    peroxisomedb.org/show.php?action=fullGene&...
  • Journal of Biological Chemistry - 0021-9258
    Journal of Biological Chemistry: 0021-9258 1083-351X ... previously shown that P11L and I340M polymorphisms together with I244T mutation (AGXT-LTM) represent a ...
    pubget.com/profile/journal/Journal of Biological Chemistry
  • WikiGenes - AGXT - alanine-glyoxylate aminotransferase
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/189.html

Other in silico analyses
 

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

Edit history
 

Gene search

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