PSEN2 D439A - 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 D439A

(PSEN2 Asp439Ala)


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

  • C @ chr1:227083249: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.777 (possibly damaging)
    Web search results (43 hits -- see all)
  • Arch Neurol -- A Novel Mutation in the PSEN2 Gene (T430M ...
    A Novel Mutation in the PSEN2 Gene (T430M) Associated With Variable Expression in a ... exon 12 of the PSEN2 gene, near the D439A mutation 9 and the ...
    archneur.ama-assn.org/cgi/content/full/60/8/1149
  • A Novel Mutation in the PSEN2 Gene (T430M) Associated With ...
    presenilin 2 (PSEN2) genes. Most cases are due to mu- tations in the ... PSEN2 gene, near the D439A mutation. 9. and the C- terminal end of the protein. The ...
    archneur.ama-assn.org/cgi/reprint/60/8/1149.pdf
  • 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&...
  • Mendelian Inheritance in Man Document Reader
    0001 ALZHEIMER DISEASE, FAMILIAL, TYPE 4 PSEN2, ASN141ILE In a total of 7 Volga ... 12 of the PSEN2 gene, resulting in an asp439-to-ala (D439A) substitution in the ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+600759
  • PSEN2 - presenilin 2 (Alzheimer disease 4)
    The PSEN2 mutation showed partial penetrance, milder disease, and a more favorable ... A novel presenilin 2 gene mutation (D439A) in a patient with early-onset ...
    www.ihop-net.org/UniPub/iHOP/gi/91387.html
  • OMIM: 600759
    GENE FUNCTION - PSEN2 Localization By in situ hybridization to tissues, Kovacs ... 12 of the PSEN2 gene, resulting in an asp439-to-ala (D439A) substitution in the ...
    www.genome.jp/dbget-bin/www_bget?omim+600759
  • AD&FTD Mutation Database
    PSEN2: (Val148Ile) ID: 36. Binetti G, Signorini S, Squitti R et al. Atypical dementia ... et al. A novel mutation in the PSEN2 gene (T430M) associa... Archives of Neurology 60: ...
    molgen.ua.ac.be/admutations/default.cfm?MT=1&ML=3&...
  • Early-Onset Familial Alzheimer Disease
    Prenatal testing for pregnancies at increased risk for a PSEN2 or APP ... PSEN2 has been identified in a few families (most are of Volga German ancestry) ...
    ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?...&blobtype=pdf
  • Early-onset Alzheimer's disease: Definition from Answers.com
    The presenilin 2 gene (PSEN2) is very similar in structure and function to PSEN1. ... novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease. ...
    www.answers.com/topic/familial-alzheimer-disease
  • Early-onset Alzheimer's disease - Wikipedia, the free ...
    The presenilin 2 gene (PSEN2) is very similar in structure and function to PSEN1. ... novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease. ...
    en.wikipedia.org/wiki/Early-onset_Alzheimer's_disease

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in