GRN A9D - 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!

Curation:
Currentness:

GRN A9D

(GRN Ala9Asp)


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
 

    PolyPhen-2
  • Score: 0.687 (possibly damaging)
    Web search results (1510 hits -- see all)
  • Plasma progranulin levels predict progranulin mutation status ...
    Interestingly, GRN levels were variable among GRN mutation carriers with ... as the previously reported p.A9D mutation in the signal peptide sequence of GRN, ...
    brain.oxfordjournals.org/cgi/content/full/132/3/583
  • Molecular characterization of novel progranulin (GRN ...
    Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. ... in the total GRN mRNA between cases and controls carrying the p.A9D mutation. ...
    www.ncbi.nlm.nih.gov/pubmed/18183624
  • BRAIN
    ( GRN) are an important cause of frontotemporal lobar degeneration (FTLD) with ubiquitin ... reported p.A9D. mutation in the signal peptide sequence of GRN, and a ...
    brain.oxfordjournals.org/cgi/reprint/132/3/583.pdf
  • OMIM: 138945
    The A9D substitution is predicted to occur in or near the binding ... A9D mutation resulted in normal levels of GRN mRNA, but about 50% decreased levels of secreted GRN protein ...
    www.genome.jp/dbget-bin/www_bget?omim+138945
  • A distinct clinical, neuropsychological and radiological ...
    Mutations in the progranulin gene (GRN) are a major cause of frontotemporal ... As a group, the GRN carriers showed more asymmetry than in other FTLD groups. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2577762
  • Kauwe, JSK (John S K)
    The influence of GRN genetic variability on susceptibility to AD and on ... in the total GRN mRNA between cases and controls carrying the p.A9D mutation. ...
    lib.bioinfo.pl/auid:34454
  • Gästebuch
    Musik und Beleuchtungsanlagen Eventservice Verkauf Vermietung Beratung, profesionelle und ... rubyurl.com/a9d">omaha poker rule</a> | http://rubyurl.com/a9d | <a href="http: ...
    www.msspotlight.ch/gaeste/index.php3?offset=4356
  • Dementia Clinical Trials
    Molecular Characterization of Novel Progranulin (GRN) Mutations in Frontotemporal Dementia ... total GRN mRNA between cases and controls carrying the p.A9D mutation. ...
    clinicalconnection.com/.../Condition/dementia.aspx
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    www.freerider-tracks.com/page/gar417
  • Contest page - Free Rider
    Northshore contest now on.create the best northshore you can .post it here with your username. ENTRY #: 1.) assassin1478543 TRACK: VEHICLE: MOUNTAIN...
    www.freerider-tracks.com/page/Contest+page

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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