OTC K46R - GET-Evidence

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

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Curation:
Currentness:

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OTC K46R

(OTC Lys46Arg)


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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 @ chrX:38226603: 29.4% (2571/8758) in EVS
  • G @ chrX:38111546: 26.1% (24/92) in GET-Evidence
  • Frequency shown in summary reports: 29.4% (2571/8758)

Publications
 

Genomes
 

NA12878

 

Added in this revision:

NA19129

 

snp-18

 

Other external references
 

    PolyPhen-2
  • Score: 0.008 (benign)
    Web search results (13 hits -- see all)
  • Ornithine transcarbamylase deficiency: characterization of ...
    ... in male patients with late onset of the disease and residual OTC ... The K46R polymorphism in exon 2 and the Q27OR polymorphism in exon 8 were found in 36% and 4% of screened ...
    www.ncbi.nlm.nih.gov/pubmed/8956038
  • OTC Gene, OTC Transcript, OTC Protein, and OTC Antibody ...
    1-Naphthylisothiocyanate results in decreased expression of OTC mRNA ... The K46R polymorphism in exon 2 and the Q27OR polymorphism in exon 8 were found in 36 ...
    refgene.com/gene/5009
  • Analyzing the N-acetylglutamate Synthase and Ornithin ...
    The concurrent analysis of five OTC deficient patient. specimens and one ... cause the following disorders respectively: NAGS deficiency, CPS deficiency, OTC ...
    idahotech.com/pdfs/Posters/2005/AnalyzingN-acetylglutamat...
  • Appendix_C__F.pdf2
    ... (Microsoft Word: LaserWriter 8 8.7) /Author (stewart glegg) /Title (Microsoft ... KLq1f,qHMFrW%+W+u#KgQ%h0lZ7s&W"ftYjoqD1*@Np#3+U'k!2n.6qW5[ Yls! ...
    www.seatech.fau.edu/~lavigne/AIRBOAT/Appendix_C__F.pdf2
  • Ornithine Transcarbamylase Deficiency in Iranian Children
    Ornithine transcarbamylase enzyme (OTC) is the second enzyme in the urea cycle ... OTC deficiency is the most common hereditary disorder in the urea cycle. ...
    diglib.tums.ac.ir/pub/magmng/pdf/280.pdf
  • PubMed: 8956038
    ... in male patients with late onset of the disease and residual OTC ... The K46R polymorphism in exon 2 and the Q27OR polymorphism in exon 8 were found in 36% and 4% of screened ...
    www.genome.jp/dbget-bin/www_bget?pubmed+8956038
  • OMIM: 300461
    This pre-OTC has an NH2-extension which is cleaved proteolytically concomitant ... a lys46-to-arg (K46R) polymorphism in the OTC gene (see also Hata et ...
    www.genome.jp/dbget-bin/www_bget?omim+300461
  • FCT : Resumo do Projecto
    Até ao momento foram identificadas mais de 300 mutações no gene OTC. ... sites have been found within the OTC gene, and two of them show polymorphic frequencies (K46R and Q270R) ...
    fct.mctes.pt/projectos/pub/2004/painel_result/...

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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