AGXT P11L - GET-Evidence

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(AGXT Pro11Leu)

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)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr2:241808314


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr2:241808314


hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr2:241808314


hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom T @ chr2:241808314


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr2:241808314


huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr2:241808314


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr2:241808314


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr2:241808314


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


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr2:241808314


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr2:241808314


GS12004 - var-GS12004-1100-36-ASM
het T @ chr2:241456987


GS18517 - var-GS18517-1100-36-ASM
het T @ chr2:241456987


GS19025 - var-GS19025-1100-36-ASM
het T @ chr2:241456987


GS19648 - var-GS19648-1100-36-ASM
het T @ chr2:241456987


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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