ATP7A R201X - GET-Evidence

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

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Curation:
Currentness:

ATP7A R201X

(ATP7A Arg201Stop)


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 (9 hits -- see all)
  • Translational read-through of a nonsense mutation in ATP7A ...
    Protein translation ends when a stop codon in a gene's messenger RNA transcript enters the ribosomal A site.
    www.medscape.com/medline/abstract/19194885
  • Translational read-through of a nonsense mutation in ATP7A is ...
    ... a nonsense mutation in ATP7A is associated with treatment ... In a yeast complementation assay, the R201X allele yielded 10% residual functional copper transport. ...
    www.ashg.org/genetics/ashg07s/f10729.htm
  • Translation reinitiation at the ATP7A locus associated with ...
    Translation reinitiation at the ATP7A locus associated with favorable early treatment ... The Q197X and R201X alleles produce some ATP7A capable of Cu transport such that, in ...
    www.ichg2006.com/abstract/1324.htm
  • NSTL国际科学引文数据库-检索细览
    引证文献共 0 篇. 相关文献. 参考文献相关. 指与本文(来源文献)具有共同参考文献的文献. 作者相关. 指与本文(来源文献)的作者共同发表的文献 ... indicated small amounts of native ATP7A(R201X) read-through and were associated ...
    citation.nstl.gov.cn/detail.jsp?internal_id=1324972
  • MEDLINE - Results of the search <page 1>
    We found one missense mutation and one gross deletion in the ATP7A gene in the patients. ... through of a nonsense mutation (R201X) in the human copper transport gene, ATP7A. ...
    bases.bireme.br/cgi-bin/wxislind.exe/iah/online/...+Syndrome
  • Text format
    PG - 108-13 AB - Protein translation ends when a stop codon in a gene's ... indicated small amounts of native ATP7A(R201X) read-through and were associated ...
    ncbi.nlm.nih.gov/sites/entrez?...&dopt=Medline&uid=19194885
  • Mutation Detection in the Menkes Gene ATP7A Using the Protein ...
    The gene ATP7A. defective in MD consists of 23 exons and the coding ... region of ATP7A encoded by exon 2 to exon 7. Because all the mutations identifi ...
    la-press.com/redirect_file.php?fileId=1132&...&fileType=pdf
  • OMIM: 300011
    Atp7a expression was widespread throughout development whereas Atp7b expression ... in exon 3 of the ATP7A gene, resulting in an arg201-to-ter (R201X) substitution. ...
    www.genome.jp/dbget-bin/www_bget?mim:300011

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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