PSEN2 A85V - GET-Evidence

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

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Curation:
Currentness:

PSEN2 A85V

(PSEN2 Ala85Val)


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: 0.981 (probably damaging)
    Web search results (23 hits -- see all)
  • Psen2 - Kosmix : Reference, Videos, Images, News, Shopping ...
    Presenilin-2 is a protein that in humans is encoded by the PSEN2 gene. ... Results: Genetic analysis showed a novel PSEN2 A85V mutation present in the proband and ...
    www.kosmix.com/topic/PSEN2
  • PubMed Interface
    RESULTS: Genetic analysis showed a novel PSEN2 A85V mutation present in the proband and in all analyzed affected members, in a subject presenting ...
    current-reports.com/PubMed/...?View=Medline&ID=18427071
  • ALPHA SYNUCLEIN PATHOLOGY IN FAMILIAL ALZHEIMER'S DISEASE ...
    analysed immunohistochemically for the presence of LB and LN the brains of patients of Italian AD families associated with PSEN2. mutations A85V, M231I, M239V. ...
    www.kenes.com/adpd2009/cd/pdf/1233.pdf
  • A novel PSEN2 mutation associated with a peculiar phenotype ...
    A novel PSEN2 mutation associated with a peculiar phenotype ... Results: Genetic analysis showed a novel PSEN2 A85V mutation present in the proband and ...
    www.neurology.org/cgi/content/abstract/70/17/1549
  • AD&FTD Mutation Database
    PSEN2 Ala85Val Mutation Details (Table Legend) Gene. PSEN2. Name. g. ... p.A85V. Region. Ex4. CDS. N-Term. Phenotype. Alzheimer Disease / Parkinsonism. Mean of Mean ...
    molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&...&ID=373
  • OMIM: 600759
    They observed that the absence of Psen1 or both Psen1 and Psen2 in mice resulted in reduced PEN2 levels. ... the PSEN2 gene, resulting in an ala85-to-val (A85V) substitution in ...
    www.genome.jp/dbget-bin/www_bget?omim+600759
  • A novel PSEN2 mutation associated with peculiar ...
    Explore the updated online encyclopedia from Encyclopaedia Britannica with hundreds of thousands of articles, biographies, videos, images, and web sites.
    britannica.com/bps/additionalcontent/18/31889608/...
  • MMP-9 secretion in the presence of Ab(1-40) results in sAPPa ...
    Presenilin 2 (PSEN2) mutations are rare and extrapyramidal phenotypes were not observed until now. ... of codon 85 in exon 4, predicting an alanine-to-valine substitution (A85V) ...
    britannica.com/bps/additionalcontent/18/31889607/...
  • 神経疾患治療マニュアル " 遺伝性アルツハイマー型認知症 update
    A novel PSEN2 mutation associated with a peculiar phenotype. ... presenilin 2 (PSEN2)遺伝子A85Vの新たな遺伝子変異では、典型的なAD症状の症例のほかに、レビー小体病に類似した臨床病理学的特徴をもつ症例も含まれていた ...
    www.treatneuro.com/archives/225
  • 195.250.138.169/PSYCHIAT/documents/06_Stastny.pdf
    and PSEN2) responsible for the autosomal-dominant early onset form of FAD and ... Produkt APP PEN2 PSEN1 PSEN2 MAPT APOE A2M SORL1 IDE věk, vzdělání, zánět, ...
    195.250.138.169/PSYCHIAT/documents/06_Stastny.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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