AUH R197X - GET-Evidence

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

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Curation:
Currentness:

AUH R197X

(AUH Arg197Stop)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (14 hits -- see all)
  • 3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH
    Mutation analysis of AUH in two patients revealed a nonsense mutation (R197X) and a splice-site mutation ... The R197X nonsense mutation causes the translation to be terminated ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC378594
  • 3-Methylglutaconic aciduria type I is caused by mutations in AUH.
    3-Methylglutaconic aciduria type I is caused by mutations in AUH. ... Mutation analysis of AUH in two patients revealed a nonsense mutation (R197X) and a splice-site mutation ...
    www.ncbi.nlm.nih.gov/pubmed/12434311
  • Mutations in the AUH gene cause 3-methylglutaconic aciduria ...
    Mutations identified include c.80delG, R197X, IVS8-1G>A, A240V, and c.613_614insA. ... The boy is homozygous for an N-terminal frameshift mutation in the AUH gene. ...
    cat.inist.fr/?aModele=afficheN&cpsidt=14691343
  • Report 3-Methylglutaconic Aciduria Type I Is Caused by ...
    Mutation analysis of AUH in two. patients revealed a nonsense mutation (R197X) and a splice-site mutation (IVS8-1GrA), demonstrating that mu ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • AJHG - 3-Methylglutaconic Aciduria Type I Is Caused by ...
    A segment of AUH, named the R peptide, binds to RNA. However, the ... Mutation analysis of AUH in two patients revealed a nonsense mutation (R197X) and a splice-site mutation ...
    www.cell.com/AJHG/abstract/S0002-9297(07)60868-4
  • AJHG - Mutation Characterization and Genotype-Phenotype ...
    3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH ... Mutation analysis of AUH in two patients revealed a nonsense mutation (R197X) and a splice-site mutation ...
    www.cell.com/AJHG/abstract/S0002-9297(07)60194-3
  • Hydro-Lyases :: deficiency
    3-Methylglutaconic aciduria type I is caused by mutations in AUH. ... Mutation analysis of AUH in two patients revealed a nonsense mutation (R197X) and a splice-site mutation ...
    lib.bioinfo.pl/meid:29011
  • Voordrachten
    3-methylglutaconic aciduria type I is caused by mutations in AUH ... Results: Both EST clone FLJ 10948 and AUH were. shown to have 3-methylglutaconyl-CoA ...
    www.nvkc.nl/publicaties/documents/2003-2-p80.pdf
  • OMIM: 600529
    Complete absence of AUH appeared to be compatible with normal development in some cases. ... 5 of the AUH gene, resulting in an arg197-to-ter (R197X) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+600529
  • PubMed: 12655555
    Mutations identified include c.80delG, R197X, IVS8-1G>A, A240V, and c. ... in the AUH gene. Complete absence of 3-methylglutaconyl-CoA hydratase/AUH appears ...
    www.genome.jp/dbget-bin/www_bget?pubmed:12655555

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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