ATP7A N1304S - GET-Evidence

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

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Curation:
Currentness:

ATP7A N1304S

(ATP7A Asn1304Ser)


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 (10 hits -- see all)
  • Neonatal Diagnosis and Treatment of Menkes Disease
    We characterized ATP7A mutations using yeast complementation, ... and ccc2 deletion transformed with the mutant ATP7A allele, N1304S (associated with typical occipital-horn syn ...
    content.nejm.org/cgi/reprint/358/6/605.pdf
  • Menkes Disease: eMedicine Neurology
    Overview: Menkes disease, also known as kinky hair disease, is an X-linked ... (N1304S) was associated with approximately 30% residual function of ATP7A.6 ...
    emedicine.medscape.com/article/1180460-overview
  • Molecular pathogenesis of Wilson and Menkes disease ...
    metabolism are the copper-transporting P-type ATPases ATP7A ... ATP7A and ATP7B exert their functions in copper. transport through a variety of ...
    jmg.bmj.com/content/44/11/673.full.pdf+html
  • Protein Page: NP_000043
    The ATP7A gene encodes for a copper transporting P-type ATPase (ATP7A), which is ubiquitously expressed. ... cerevisiae mutant strain, to assess in vitro N1304S copper transport. ...
    membranetransport.org/protein.php?pOID=hsap2&...
  • OMIM 300011 - ATPasi, Polipeptide alfa trasportatore del Cu(2 ...
    Atp7a espressiUna era diffusa traverso sviluppo mentre Atp7b espressiUna era più ... 20 del ATP7A gene, provocante una asparagina-to-serina sostituzione a codone 1304 (N1304S) ...
    www.fonama.org/i_omim/3/i_300011.html
  • OMIM
    Atp7a espressione era diffusa attraverso sviluppo mentre Atp7b espressione era più ... della ATP7A gene, causante in un asparagina-to-serina sostituzione a codone 1304 (N1304S) ...
    www.fonama.org/i_omim/3/i_300011.htm
  • OMIM: 300011
    Atp7a expression was widespread throughout development whereas Atp7b ... the ATP7A gene, resulting in an asparagine-to-serine substitution at codon 1304 (N1304S) ...
    www.genome.jp/dbget-bin/www_bget?mim:300011
  • Crime and Justice
    True crime and justice cases from around the world. ... The migration of ATP7A appears to involve amino acid sequences in the carboxyl terminus, utilizing both ...
    crimeandjustice.us/forums/index.php?showtopic=9939&...
  • OMIM: 304150
    CLINICAL FEATURES Lazoff et al. (1975) described an unusual syndrome ... syndrome who had a missense mutation (N1304S; 300011.0013) that had 33% residual copper ...
    www.genome.jp/dbget-bin/www_bget?omim+304150

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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