PSEN2 N141I - GET-Evidence

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

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Curation:
Currentness:

PSEN2 N141I

(PSEN2 Asn141Ile)


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: 1.0 (probably damaging)
    Web search results (164 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
  • Access : Novel role for COX2 inhibitors in the treatment of ...
    To read this article in full you may need to log in, make a payment or gain access through a site license ... in the treatment of N141I PSEN2 familial Alzheimer's disease? ...
    www.nature.com/nrneurol/journal/v2/n4/full/ncpneuro0102.html
  • Histopathological and molecular heterogeneity among ...
    In humans the PSEN1 and PSEN2 genes are localized on chromosome 14 and chromosome 1, ... A) PSEN2 N141I mutation primitive plaques immunoreacted with 10D5 antibody. ...
    alzheimers.boomja.com/ITEM-Histopathological-and-molecula...
  • Histopathological and molecular heterogeneity among ...
    In humans the PSEN1 and PSEN2 genes are localized on chromosome 14 and ... A) PSEN2 N141I mutation primitive plaques immunoreacted with 10D5 antibody. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2600784
  • Molecular Neurodegeneration | Full text | Histopathological ...
    In humans the PSEN1 and PSEN2 genes are localized on chromosome 14 and ... A) PSEN2 N141I mutation primitive plaques immunoreacted with 10D5 antibody. ...
    www.molecularneurodegeneration.com/content/3/1/20
  • PSEN2 - presenilin 2 (Alzheimer disease 4) - Genetics Home ...
    The PSEN2 gene is also known by other names, listed below. ... How are changes in the PSEN2 gene related to health conditions? Alzheimer disease ...
    ghr.nlm.nih.gov/gene=psen2
  • JAD - Volume 8, Number 1
    Diminished taxol/GTP-stimulated tubulin polymerization in diseased region of ... by PSEN2 N141I mutation or frontotemporal dementia with parkinsonism linked to ...
    www.j-alz.com/issues/8/vol8-1.html
  • Alzforum: Papers of the Week
    Like the PSEN2 N141I mutation (Levy-Lahad et al., 1995), the PSEN-R269H mutation now appears to be associated with both early- and late-onset AD. ...
    www.alzforum.org/pap/annotation.asp?powID=62098
  • Mendelian Inheritance in Man Document Reader
    The N141I mutation did not cause any significant change in the metabolism of PS2. ... with Alzheimer disease due to the N141I mutation of the PSEN2 gene. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+600759
  • OMIM: 600759
    The N141I mutation did not cause any significant change in the ... COS-1 cells doubly transfected with the mutant N141I PSEN2 gene and human beta-amyloid precursor protein, as ...
    www.genome.jp/dbget-bin/www_bget?omim+600759

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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