PSEN2 M239I - 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:

PSEN2 M239I

(PSEN2 Met239Ile)


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: 0.997 (probably damaging)
    Web search results (43 hits -- see all)
  • Variable expression of familial Alzheimer disease associated ...
    Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I ... Alzheimer disease—Presenilin 2—Mutation—Phenotype variability—M239IPSEN2—PS2. ...
    www.neurology.org/cgi/content/abstract/54/10/2006
  • High Prevalence of Pathogenic Mutations in Patients with ...
    PS2, T122P and M239I; and in PrP, Q160X and T188K) and five previously ... We have identified another yet-undescribed PSEN2. mutation (M239I in PS2 TM5) in the index ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • High Prevalence of Pathogenic Mutations in Patients with ...
    PS2 M239I. We have identified another yet-undescribed PSEN2 mutation (M239I in PS2 TM5) in ... In these studies, only PSEN1 mutations—and no mutations in PSEN2 or APP—were found. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1288316/?tool=EBI
  • PSEN2 - presenilin 2 (Alzheimer disease 4)
    The PSEN2 mutation showed partial penetrance, milder disease, and a ... The presenilin 2 M239I mutation associated with familial Alzheimer's disease reduces Ca2+ ...
    www.ihop-net.org/UniPub/iHOP/gi/91387.html
  • OMIM: 600759
    GENE FUNCTION - PSEN2 Localization By in situ hybridization to tissues, Kovacs ... heterozygosity for a met239-to-ile (M239I) mutation in the PSEN2 gene. ...
    www.genome.jp/dbget-bin/www_bget?omim+600759
  • 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&...
  • AJHG - High Prevalence of Pathogenic Mutations in Patients ...
    The PSEN2 mutation showed partial penetrance, milder disease, and a more ... (in PS1, F105L; in PS2, T122P and M239I; and in PrP, Q160X and T188K) and five ...
    www.cell.com/AJHG/abstract/S0002-9297(07)62237-X
  • The presenilin 2 M239I mutation associated with familial ...
    The presenilin 2 M239I mutation associated with familial Alzheimer's ... biopsy of FAD-PS2 M239I patients as previously described (Govoni et al., 1993) ...
    www.bio.unipd.it/~pozzan/PDFs/Zatti_NeurobiolDis_2004.pdf
  • A Novel Mutation in the PSEN2 Gene (T430M) Associated With ...
    A Novel Mutation in the PSEN2 Gene (T430M) Associated With Variable Expression in a ... and PSEN2 genes are rare. Objective: To describe a novel mutation in ...
    archneur.ama-assn.org/cgi/reprint/60/8/1149.pdf
  • Arch Neurol -- A Novel Mutation in the PSEN2 Gene (T430M ...
    Archives of Neurology, a monthly professional medical journal published by the American Medical Association, publishes original, peer-reviewed scientific research on ...
    archneur.ama-assn.org/cgi/content/full/60/8/1149

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in