PSEN2 T122R - GET-Evidence

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

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Curation:
Currentness:

PSEN2 T122R

(PSEN2 Thr122Arg)


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: 0.998 (probably damaging)
    Web search results (18 hits -- see all)
  • WikiGenes - PSEN2 - presenilin 2 (Alzheimer disease 4)
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/5664.html
  • FDG-PET Improves Accuracy in Diagnosing Dementia and ...
    FDG-PET Improves Accuracy in Diagnosing Dementia and Alzheimer's ... of hypometabolism and a novel T122R mutation in the presenilin-2 gene (PSEN2) was subsequently discovered. ...
    www.medscape.com/viewarticle/564686_4
  • OMIM: 600759
    They observed that the absence of Psen1 or both Psen1 and Psen2 in mice resulted in reduced PEN2 levels. ... of the PSEN2 gene, resulting in a thr122-to-arg (T122R) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+600759
  • FDG-PET improves accuracy in distinguishing frontotemporal ...
    Center for Alzheimer's Care, Imaging and Research and Department of Neurology, University ... Alzheimer's Disease Center, Institute on Aging and Department of ...
    bic.berkeley.edu/despolab/.../Fosteretal_FDG_PET_inFTLD.pdf
  • PSEN2 - presenilin 2 (Alzheimer disease 4)
    The PSEN2 mutation showed partial penetrance, milder disease, and a more ... FAD fibroblasts another PS2 mutation (T122R) reduces both Ca2+ release and capacitative ...
    www.ihop-net.org/UniPub/iHOP/gi/91387.html
  • Å ̇Î"‡ Ò͇ çÂ" ÓÎÓ"Ëfl Bulgarian Neurology
    PSEN2 mutations clinically characterized by long-term pro- gression and clinical course ... Ë PSEN2 "ÂÌË Ë Ô Ë ÏÓÁ ̇ ̃̇ ‡ÏËÎÓˉÓÁ‡ ̃ÂÒÚÓ Ò ̇·Î ...
    www.nevrologiabg.com/bneurology/bulneur4_07.pdf
  • Revista de Psiquiatria Clínica - Influência genética sobre a ...
    Mutações nos genes APP, PSEN1 e PSEN2 são responsáveis por aproximadamente 40% dos casos ... duas mutações nesse gene (M239V e T122R) também foram associadas com a DA de início ...
    scielo.br/scielo.php?...&lng=pt&nrm=iso&tlng=pt
  • Influência genética sobre a doença de Alzheimer de início precoce
    O gene da PSEN2 apresenta seis mutações de troca de aminácidos. ... nesse gene (M239V e T122R) também foram associadas. com a DA de início precoce. 50,51. Gene ...
    www.hcnet.usp.br/ipq/revista/vol36/n1/pdf/25.pdf
  • Avaliação dos Tipos 1 e 2 de alcoolismo de Cloningerem homens ...
    Mutações nos genes APP, PSEN1 e PSEN2 são responsáveis por aproximadamente 40% dos casos ... duas mutações nesse gene (M239V e T122R) também foram associadas com a DA de início ...
    www.hcnet.usp.br/ipq/revista/vol36/n1/25.htm
  • 46
    Effettuare lo screening per mutazioni nei geni APP, PSEN1, PSEN2 e MAPT; ... recanti le mutazioni PS2 T122R, PS1 P117L, e tau P301L evidenziano l'importanza ...
    www.irccs-fatebenefratelli.it/relazione2005/46.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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