GAA G576S - GET-Evidence

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

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Curation:
Currentness:

GAA G576S

(GAA Gly576Ser)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • A @ chr17:78085871: 0.1% (10/10758) in EVS
  • A @ chr17:75700465: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (10/10758)

Publications
 

Genomes
 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr17:78085871

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr17:75700466

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr17:75700466

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr17:75700466

 

Other external references
 

    dbSNP
  • rs1800307
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (27 hits -- see all)
  • p.[G576S; E689K]: pathogenic combination or polymorphism in ...
    p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? ... acid alpha-glucosidase gene (GAA) translating into p.[G576S; E689K] ...
    ncbi.nlm.nih.gov/pubmed/18301443?ordinalpos=3&...
  • Pilot Newborn Screening Study for Pompe Disease in Taiwan ...
    P. Labrousse1, Y. Chein3, R. Pomponio2, J. Keutzer1, N. Lee3, S. Mann1, C. ... that the NBS assay is effective in identifying infants with low GAA activity. ...
    www.ashg.org/2008meeting/abstracts/fulltext/f21626.htm
  • Genetic analysis of the GAA gene for 47 newborn screening samples.
    Genetic analysis of the GAA gene for 47 newborn screening samples. ... known that some variants (e.g. p.G576S and p.E689K) have been shown to contribute to ...
    www.ashg.org/genetics/ashg07s/f20520.htm
  • European Journal of Human Genetics - Abstract of article: p ...
    p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? ... in the acid -glucosidase gene (GAA) translating into p.[G576S; E689K] ...
    www.nature.com/ejhg/journal/v16/n8/abs/ejhg200834a.html
  • 2008 July/August
    p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? ... A] in the acid alpha-glucosidase gene (GAA) translating into p.[G576S; E689K] ...
    genes-r-us.uthscsa.edu/resources/.../2008July_August.doc
  • Structural and biochemical studies on Pompe disease and a ...
    The structural change caused by p.G576S is predicted to be small, and cells from ... Glucosidases/metabolism. Substances: GAA protein, human. alpha ...
    ncbi.nlm.nih.gov/pubmed/17805474?ordinalpos=8&...
  • DMD Genetic Therapy Group: Christa de Winter
    Laura van Vliet is Research Technician in the DMD Genetic Therapy Group at the ... M, Van der Helm R, Halley D, Reuser A and the GAA Database Consortium ...
    www.humgen.nl/lab-vdeutekom/personnel/laura.htm
  • Thesaurus : maltase acide
    ... acid maltase ; alpha GAA ; alpha glucosidase ; exo-1,4-alpha-glucosidase ; GAA, ... Articles : p.[G576S; E689K] : pathogenic combination or polymorphism ...
    myobase.org/Record.htm?Record=19299301146910175839&idlist=3
  • Pompe Center ErasmusMC Rotterdam - Publicaties
    CMSimple is a simple content management system for smart maintainance of small commercial ... Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A; GAA Database Consortium. ...
    www.pompecenter.nl/?Publicaties
  • Thesaurus : activité enzymatique
    Articles : p.[G576S; E689K] : pathogenic combination or polymorphism in Pompe disease ? ... assay for detection of GAA mutations and characterization of the GAA mutation ...
    myobase.org/Record.htm?Record=19296119146910143919&idlist=3

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

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