AGXT I340M - GET-Evidence

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

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Curation:
Currentness:

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AGXT I340M

(AGXT Ile340Met)


You are viewing an old version of this page that was saved on November 29, 2012 at 3:23am by Genome Importing Robot.

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

  • G @ chr2:241817516: 15.7% (1687/10758) in EVS
  • G @ chr2:241466188: 15.6% (20/128) in GET-Evidence
  • Frequency shown in summary reports: 15.7% (1687/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr2:241817516

 

Added in this revision:

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr2:241817516

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom G @ chr2:241817516

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr2:241817516

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr2:241817516

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom G @ chr2:241817516

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr2:241817516

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr2:241817516

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr2:241466189

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr2:241466189

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr2:241466189

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr2:241466189

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr2:241466189

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr2:241466189

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr2:241466189

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr2:241466189

 

Other external references
 

    dbSNP
  • rs4426527
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (27 hits -- see all)
  • Primary hyperoxaluria type 1 in the Canary Islands: A ...
    AGXT (EC 2.6.1.44) is an important enzyme in the detoxification of glyoxylate. ... (AGXT*T), Ile-340 Met (I340M) (AGXT*M), both P11L and I244T (AGXT*LT), and all ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC165866
  • Pubget: latest:Journal of Biological Chemistry - Regulation ...
    We have previously shown that P11L and I340M polymorphisms together with I244T mutation (AGXT-LTM) represent a conformational diseas... J Biol Chem 285:6371 (2010) ...
    pubget.com/search?q=latest:Journal of Biological Chemistr...
  • Alanine–glyoxylate aminotransferase-deficient mice, a model ...
    Targeted Disruption of the Agxt Gene and Generation of Agxt/ Mice. ... homologous recombination with replacement of Agxt exons 4–8 by the neoresistance ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1838738
  • Journal Of Biological Chemistry RSS Page 1
    Journal Of Biological Chemistry RSS Page 1 ... shown that P11L and I340M polymorphisms together with I244T mutation (AGXT-LTM) represent a conformational ...
    medworm.com/rss/search.php?qu=Journal+of+...&f=source&page=1
  • Journal Of Biological Chemistry RSS Page 4
    Journal Of Biological Chemistry RSS Page 4 ... shown that P11L and I340M polymorphisms together with I244T mutation (AGXT-LTM) represent a conformational ...
    medworm.com/rss/search.php?qu=Journal+of+...&f=source&page=4
  • EC 2.6.1.44 - alanine-glyoxylate transaminase
    AGXT cDNA cloned, AGXT*LTM expressed as a GST-fusion protein in Escherichia coli ... I340M. Homo sapiens. polymorphism associated with enzyme from minor ...
    www.brenda-enzymes.org/php/result_flat.php4?ecno=2.6.1.44
  • 郡山女子大学図書館 - リンク集
    We have previously shown that P11L and I340M polymorphisms together with I244T mutation (AGXT-LTM) represent a conformational disease that could ...
    library.koriyama-kgc.ac.jp/modules/weblinks/viewfeed.php?...
  • Crystallization and preliminary crystallographic analysis of ...
    BioInfoBank Library :: Crystallization and preliminary crystallographic analysis of human alanine:glyoxylate aminotransferase and its polymorphic variants. Protein ...
    lib.bioinfo.pl/pmid:11717523
  • Centre for Arab Genomic Studies (CAGS) --> CTGA --> Alanine ...
    AGXT gene is located at the telomeric end of the long arm of chromosome 2 at 2q36-37 and spans 100 kb of ... combination of three polymorphisms including: P11L in exon 1, I340M ...
    cags.org.ae/FMPro?-DB=ctga.fp5&-Format=ctga/...&-Find
  • Patología molecular de la hiperoxaluria primaria
    AGXT provoca un acúmulo de glioxilato que se con- vierte en oxalato, compuesto tóxico sin ... AGXT*LTM: AGXT con cambio P11L + I244T + I340M; µmol: micromol; ...
    www.revistanefrologia.com/mostrarfile.asp?ID=1264

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

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