AGXT P11L - GET-Evidence

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

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(AGXT Pro11Leu)

You are viewing an old version of this page that was saved on December 5, 2010 at 6:28pm by Genome Importing Robot.

Short summary


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


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



Added in this revision:

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom T @ chr2:241808314












Other external references

  • rs34116584
  • 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) ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Gene : AGXT
    AGXT. Name/description : alanine-glyoxylate aminotransferase. Synonyms : ... mutation in the P11L-containing alanine:glyoxylate aminotransferase. ...
  • 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 ... 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.

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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