PSEN2 T122P - 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 T122P

(PSEN2 Thr122Pro)


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: 0.998 (probably damaging)
    Web search results (28 hits -- see all)
  • High Prevalence of Pathogenic Mutations in Patients with ...
    PS2 T122P. This PSEN2 mutation was identiļ¬ed in patient 6, whose age at onset of disease ... In addition to the PS2 T122P mutation, patient 6 car- ried a ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • 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
  • High Prevalence of Pathogenic Mutations in Patients with ...
    PS2 T122P. This PSEN2 mutation was identified in patient 6, whose age ... In addition to the PS2 T122P mutation, patient 6 carried a heterozygous 24-bp in ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1288316/?tool=EBI
  • OMIM: 600759
    They observed that the absence of Psen1 or both Psen1 and Psen2 in mice resulted in reduced PEN2 levels. ... (2000) identified a thr122-to-pro (T122P) mutation in the PSEN2 gene. ...
    www.genome.jp/dbget-bin/www_bget?omim+600759
  • AD&FTD Mutation Database
    PSEN2 Thr122Pro Mutation Details (Table Legend) Gene. PSEN2. Name. g. ... p.T122P. Region. EX5. CDS. HL-I. Phenotype. Alzheimer Disease. Mean of Mean Onset Ages: 47.9y ...
    molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&...&ID=76
  • AJHG - High Prevalence of Pathogenic Mutations in Patients ...
    The PSEN2 mutation showed partial penetrance, milder disease, and a more ... novel mutations (in PS1, F105L; in PS2, T122P and M239I; and in PrP, Q160X and ...
    www.cell.com/AJHG/abstract/S0002-9297(07)62237-X
  • High prevalence of pathogenic mutations in patients with ...
    Department of Human Genetics, University Hospital Eppendorf, University of ... novel mutations (in PS1, F105L; in PS2, T122P and M239I; and in PrP, Q160X and ...
    www.ncbi.nlm.nih.gov/pubmed/10631141
  • Prion Disease: Gene within a gene
    In addition to the PS2 T122P mutation, patient 6 carried a heterozygous 24-bp in-frame deletion in PRNP (del ... who had mutations in PSEN1, PSEN2, or APP most likely have FAD, ...
    www.mad-cow.org/00/jan00_sci_news.html
  • A Molecular Genetic Study of Factors Involved in Alzheimer's ...
    Doctoral thesis by Mikko Hiltunen, Department of Neuroscience and Neurology, University of Kuopio ... mutations in APP, PSEN1, and PSEN2 genes are responsible for the ...
    www.uku.fi/neuro/53the.htm
  • KUOPION YLIOPISTO UNIVERSITY OF KUOPIO Neurologian klinikan ...
    A MOLECULAR GENETIC STUDY OF FACTORS INVOLVED IN ALZHEIMER'S ... well-established effects of the APP, PSEN-1, PSEN2 and ApoE. genes in early and late onset ...
    www.uku.fi/neuro/theses/53the.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in