AGXT2 G132R - GET-Evidence

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

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Curation:
Currentness:

AGXT2 G132R

(AGXT2 Gly132Arg)


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 @ chr5:35037139: 2.5% (269/10758) in EVS
  • G @ chr5:35072895: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 2.5% (269/10758)

Publications
 

Genomes
 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr5:35072896

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr5:35072896

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr5:35072896

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr5:35072896

 

Other external references
 

    dbSNP
  • rs16870794
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (21 hits -- see all)
  • AGXT2 Gene - GeneCards | AGT2 Protein | AGT2 Antibody
    EntrezGene summary for AGXT2: The protein encoded by this gene is a ... AGXT2 Gene in genomic location: bands according to Ensembl, locations according to (and ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=AGXT2
  • Alanine--glyoxylate aminotransferase 2, mitochondrial ...
    Databases that you can search in. Query. Enter your search text here. Enter your search ... AGXT2. Synonyms: AGT2. Organism. Homo sapiens (Human) [Complete proteome] ...
    www.uniprot.org/uniprot/AGT2_HUMAN
  • HMDB00148.txt
    Glutamic acid is the most common excitatory neurotransmitter in the ... Synonyms: (2S)-2-Aminopentanedioic acid; (S)-(+)-Glutamic acid; (S)-2-Aminopentanedioic ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB00148.txt
  • HMDB00125.txt
    It conjugates to drugs to make them more soluble for excretion, is a ... Pubchem; Glutathione participates in leukotriene synthesis and is a cofactor for ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB00125.txt
  • HMDB00161.txt
    It is involved in sugar and acid metabolism, increases IMMUNITY, and provides ... rs17245714; rs16899974; rs37370; rs16870794; rs2279651; rs466067; rs16899972; ...
    wks16338.biology.ualberta.ca/~dean/polyomx/.../HMDB00161.txt
  • HMDB00125.txt
    It conjugates to drugs to make them more soluble for excretion, is a ... Pubchem; Glutathione participates in leukotriene synthesis and is a cofactor for ...
    wks16338.biology.ualberta.ca/~dean/polyomx/.../HMDB00125.txt
  • UniProt: Q9BYV1
    AC Q9BYV1; Q53FB4; Q53FY7; Q53G03; Q5W7Q1; DT 05-DEC-2001, integrated into ... DR CTD; 64902; -. DR GeneCards; GC05M035033; -. DR HGNC; HGNC:14412; AGXT2. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q9BYV1

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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