AGXT P11L - GET-Evidence

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

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Curation:
Currentness:

AGXT P11L

(AGXT Pro11Leu)


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
 

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
 

    dbSNP
  • rs34116584
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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

"GENE" or "GENE A123C":

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