OTC K46R - GET-Evidence

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

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(OTC Lys46Arg)

You are viewing an old version of this page that was saved on June 23, 2011 at 12:09am by Genome Importing Robot.

Short summary


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


Insufficiently evaluated benign

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

Inheritance pattern


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)





huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chrX:38226603


GS06985 - var-GS06985-1100-36-ASM
het G @ chrX:38111547


GS10851 - var-GS10851-1100-36-ASM
hom G @ chrX:38111547


GS18501 - var-GS18501-1100-36-ASM
hom G @ chrX:38111547


GS18502 - var-GS18502-1100-36-ASM
het G @ chrX:38111547


GS18504 - var-GS18504-1100-36-ASM
hom G @ chrX:38111547


GS18505 - var-GS18505-1100-36-ASM
het G @ chrX:38111547


GS19017 - var-GS19017-1100-36-ASM
het G @ chrX:38111547


GS19025 - var-GS19025-1100-36-ASM
hom G @ chrX:38111547


GS19026 - var-GS19026-1100-36-ASM
hom G @ chrX:38111547


GS19129 - var-GS19129-1100-36-ASM
het G @ chrX:38111547


GS19238 - var-GS19238-1100-36-ASM
het G @ chrX:38111547


GS19240 - var-GS19240-1100-36-ASM
het G @ chrX:38111547


GS19648 - var-GS19648-1100-36-ASM
het G @ chrX:38111547


GS19649 - var-GS19649-1100-36-ASM
hom G @ chrX:38111547


GS19701 - var-GS19701-1100-36-ASM
het G @ chrX:38111547


GS20502 - var-GS20502-1100-36-ASM
het G @ chrX:38111547


GS20509 - var-GS20509-1100-36-ASM
hom G @ chrX:38111547


GS21767 - var-GS21767-1100-36-ASM
het G @ chrX:38111547




Deleted in this revision:





Other external references

  • rs1800321
  • 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 ...
  • 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 ...
  • 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 ...
  • 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! ...
  • 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. ...
  • 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 ...
  • 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 ...
  • 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) ...

Other in silico analyses

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

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Gene search

"GENE" or "GENE A123C":

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