ATP7A G1019D - GET-Evidence

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

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Curation:
Currentness:

ATP7A G1019D

(ATP7A Gly1019Asp)


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 (14 hits -- see all)
  • 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
  • A conditional mutation affecting localization of the Menkes ...
    In copper-limiting conditions the G1019D mutant protein was retained in the ... These findings identify G1019D as the first conditional mutation associated with ...
    www.ncbi.nlm.nih.gov/pubmed/12221109
  • OMIM 300011 - ATPasi, Polipeptide alfa trasportatore del Cu(2 ...
    La ATP7A gene venne clonato come a candidate per il sito delle mutazioni causante Menkes ... Atp7a espressiUna era diffusa traverso sviluppo mentre Atp7b ...
    www.fonama.org/i_omim/3/i_300011.html
  • OMIM
    The ATP7A e ATP7B (606882) geni dimostrarono stridentemente simili exonic ... Questa ATP7A-dipendente attivazione di tyrosinase era insufficiente ...
    www.fonama.org/i_omim/3/i_300011.htm
  • OMIM: 300011
    Atp7a expression was widespread throughout development whereas Atp7b ... G1019D mutant, suggesting that this mutation interferes with protein folding in the secretory pathway. ...
    www.genome.jp/dbget-bin/www_bget?mim:300011
  • Protein Page: NP_000043
    The ATP7A gene encodes for a copper transporting P-type ATPase (ATP7A), which is ... A defect of the ATP7A protein leads to both a reduced transport of copper from ...
    membranetransport.org/protein.php?pOID=hsap2&...
  • ATP7A - ATPase, Cu++ transporting, alpha polypeptide
    More than 150 point mutations have now been identified in the ATP7A gene. ... A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease. ...
    www.ihop-net.org/UniPub/iHOP/gismo/86654.html
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal reference library that is ... and viable mutations, Atp7a(moMac) (Macular) and Atp7a(moVbr) (Viable brindle) both ...
    www.esrnexus.com/advsearch.aspx?txtAuthor=Byung-Eun
  • A conditional mutation affecting localization of the Menkes ...
    Copper is an essential co-factor for several key metabolic processes. ... of the G1019D mutant, suggesting this mutation interferes with protein folding in the secretory pathway. ...
    www.medscape.com/medline/abstract/12221109
  • A histidine-rich cluster mediates the ubiquitination and ...
    The ATP7A protein is located in the trans-Golgi network where it transports ... These findings identify G1019D as the first conditional mutation associated with ...
    lib.bioinfo.pl/pmid:17202136

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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