AGXT F152I - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

AGXT F152I

(AGXT Phe152Ile)


Short summary

This variant is associated with Hyperoxaluria, Primary, Type 1

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability 5

Diagnostic test

See unpublished research (below).

Penetrance -
 

Impact

Insufficiently evaluated pathogenic

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

Inheritance pattern

recessive

Summary of published research, and additional commentary

Used Counsyl Diagnostic Screen http://precedings.nature.com/documents/4192/version/1

Allele frequency

  • A @ chr2:241810796: 0.0% (1/10728) in EVS
  • Frequency shown in summary reports: 0.0% (1/10728)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (19 hits -- see all)
  • Medline ® Abstract for Reference of 'Primary hyperoxaluria'
    Mutations in AGXT, a locus mapped to 2q37.3, cause deficiency of ... the next highest frequency (11%), followed by F152I and G156R (frequencies of ...
    uptodate.com/patients/content/abstract.do?...&refNum=12
  • Comprehensive Mutation Screening in 55 Probands with Type 1 ...
    Mutations in AGXT, a locus mapped to 2q37.3, cause deficiency of liver-specific ... entire AGXT coding region and documented hepatic AGT deficiency, suggests that a ...
    jasn.asnjournals.org/cgi/content/abstract/18/6/1905
  • EC 2.6.1.44 - alanine-glyoxylate transaminase
    AGXT cDNA cloned, AGXT*LTM expressed as a GST-fusion protein in Escherichia coli ... F152I. Homo sapiens. natural mutation in enzyme minor allele, decreased ...
    www.brenda-enzymes.org/php/result_flat.php4?ecno=2.6.1.44
  • PDBsum entry: 1h0c
    The crystal structure of human alanine:glyoxylate aminotransferase ... hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. ...
    ebi.ac.uk/thornton-srv/databases/.../GetPage.pl?pdbcode=1h0c
  • Enzymological and mutational analysis of a complex primary ...
    BioInfoBank Library :: Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase ...
    lib.bioinfo.pl/pmid:8101040
  • "AGT"[id:bioentity:gen_entrezgene_189_homosapiens_1] articles ...
    The Pro11Leu substitution in the AGXT gene, which causes primary hyperoxaluria type 1, is found with high ... Alanine:Glyoxylate Aminotransferase and the F152I Mutation. ...
    novoseek.com/...&corpus=MEDLINE&criterion=1
  • RefSeq: NP_000021
    LOCUS NP_000021 392 aa linear PRI 17-JAN-2010 DEFINITION alanine-glyoxylate ... Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation. ...
    www.genome.jp/dbget-bin/www_bget?refseq+NP_000021
  • 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 ... common mutations (G170R, I244T, F152I) are inherited with the minor ...
    cags.org.ae/FMPro?-DB=ctga.fp5&-Format=ctga/...&-Find
  • Primary hyperoxaluria type 1: genotypic and phenotypic ...
    BioInfoBank Library :: Primary hyperoxaluria type 1: genotypic and phenotypic heterogeneity. Molecular etiology of primary hyperoxaluria type 1: new directions for ...
    lib.bioinfo.pl/pmid:7967498
  • FHA - Transaminases (Genetics) - Research News and Information
    Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. ... Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation. ...
    www.find-health-articles.com/msh-transaminases--genetics.htm

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in