ATP7A S637L - GET-Evidence

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

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Curation:
Currentness:

ATP7A S637L

(ATP7A Ser637Leu)


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 (25 hits -- see all)
  • Differences in ATP7A gene expression underlie intra-familial ...
    Differences in ATP7A gene expression underlie intra-familial ... (S637L) in an exon 8 splicing enhancer showed equally reduced amounts of ATP7A transcript ...
    jmg.bmj.com/content/early/2007/05/11/...?papetoc
  • Differences in ATP7A gene expression underlie intrafamilial ...
    Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease ... to characterise two ATP7A missense mutations, A1362D and S637L. ...
    jmg.bmj.com/content/44/8/492.abstract
  • doi:10.1086/321290
    Recently, it was reported that ATP7A-transcript levels as low as 2%–5 ... levels of functional ATP7A and (2) ATP7A does not require the dileucine motif to function ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Type I- 99%
    ... 12051714 MECP2 P51608 S229L 229 VAR_018200 MAPK (0.977) 10767337 ATP7A Q04656 S637L 637 VAR_009999 CAMKL (0.684) OHS 9246006 ABCG2 Q9UNQ0 S248P ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_99.txt
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Differences in ATP7A gene expression underlie intrafamilial ...
    Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn ... to characterise two ATP7A missense mutations, A1362D and S637L. ...
    www.ncbi.nlm.nih.gov/pubmed/17496194
  • Gene Therapy - Studies from National Institutes of Health ...
    NewsRx is the leading source of news and information on Gene Therapy ... mutation ( S637L) in an exon 8 splicing enhancer showed equally reduced amounts of ATP7A transcript and ...
    newsrx.com/newsletters/.../2007-11-15/181115200733GW.html
  • Protein Page: NP_000043
    The ATP7A gene encodes for a copper transporting P-type ATPase (ATP7A), which is ... studies to characterise two ATP7A missense mutations, A1362D and S637L. ...
    membranetransport.org/protein.php?pOID=hsap2&...
  • Diagnosis and Treatment of Inherited Pediatric Diseases
    ... with large or out-of-frame ATP7A deletions showed no detectable ATP7A ... and eight years, had a missense mutation (S637L) previously associated with aberrant mRNA splicing and ...
    2006annualreport.nichd.nih.gov/upg.htm
  • ATP7A - ATPase, Cu++ transporting, alpha polypeptide
    ATP7A is a P-type ATPase involved in copper(I) homeostasis in humans. ... (S637L) in an exon 8 splicing enhancer showed equally reduced amounts of ATP7A transcript ...
    www.ihop-net.org/UniPub/iHOP/gismo/86654.html

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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