ATP7A N1304S - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!


ATP7A N1304S

(ATP7A Asn1304Ser)

Short summary


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


Insufficiently evaluated pathogenic

(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

  • None available.



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 ...
  • 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 ...
  • 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 ...
  • 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. ...
  • 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) ...
  • 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) ...
  • OMIM: 300011
    Atp7a expression was widespread throughout development whereas Atp7b ... the ATP7A gene, resulting in an asparagine-to-serine substitution at codon 1304 (N1304S) ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in