PSEN2 M239V - GET-Evidence

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

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Curation:
Currentness:

PSEN2 M239V

(PSEN2 Met239Val)


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: 0.97 (probably damaging)
    Web search results (51 hits -- see all)
  • 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
  • ALPHA SYNUCLEIN PATHOLOGY IN FAMILIAL ALZHEIMER'S DISEASE ...
    ALPHA SYNUCLEIN PATHOLOGY IN FAMILIAL ALZHEIMER'S DISEASE WITH PSEN2 MUTATIONS ... with M239V mutation, who showed a clinical picture of typical AD, ...
    www.kenes.com/adpd2009/cd/pdf/1233.pdf
  • Presenilin 2 (Alzheimer disease 4) (PSEN2) - Medpedia
    The information on this page is seed content provided by an organization. Please help ... At least 11 mutations in the PSEN2 gene have been shown to cause early-onset Alzheimer ...
    wiki.medpedia.com/Presenilin_2_(Alzheimer_disease_4)_(PSEN2)
  • High Prevalence of Pathogenic Mutations in Patients with ...
    previously reported mutations N141I and M239V of. PSEN2 (Levy-Lahad et al. 1995; Rogaev et ... PSEN2, or APP most likely have FAD, whereas muta- tions in PRNP lead ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • High Prevalence of Pathogenic Mutations in Patients with ...
    This PSEN2 mutation was identified in patient 6, whose age at onset ... previously reported mutations N141I and M239V of PSEN2 (Levy-Lahad et al. 1995; Rogaev et ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1288316/?tool=EBI
  • Centro Alzheimer - Eventi e convegni
    Biologia e Fisiopatologia delle demenze e delle malattie mentali ... "Fenotipo clinico e neuropatologico in una famiglia con AD associato a mutazione PSEN2 M239V " ...
    www.centroalzheimer.it/medeventicalecm.htm
  • Early-Onset Familial Alzheimer Disease -- GeneReviews -- NCBI ...
    Molecular genetic testing for PSEN1, PSEN2, and APP is available in clinical ... PSEN2 has been identified in a few families (most are of Volga German ancestry) ...
    ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&...
  • OMIM: 600759
    They observed that the absence of Psen1 or both Psen1 and Psen2 in mice resulted in reduced PEN2 levels. ... in the PSEN2 gene, resulting in a met239-to-val (M239V) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+600759
  • JAD - Volume 16, Number 3
    Alzheimer's Disease Research: Scientific Productivity and Impact of ... In PSEN2, T122P and M239V mutations presented with severe behavioral disturbances. ...
    www.j-alz.com/issues/16/vol16-3.html
  • PSEN2 - presenilin 2 (Alzheimer disease 4)
    The PSEN2 mutation showed partial penetrance, milder disease, and a more favorable ... of an Italian Alzheimer family with M239V mutation of presenilin 2 gene. ...
    www.ihop-net.org/UniPub/iHOP/gi/91387.html

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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