PRNP M129M - GET-Evidence

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

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Curation:
Currentness:

PRNP M129M

(PRNP Met129Met)


Short summary

Genetic risk factor for variant Creutzfeld-Jakob disease.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Mead S, Poulter M, Uphill J, Beck J, Whitfield J, Webb TE, Campbell T, Adamson G, Deriziotis P, Tabrizi SJ, Hummerich H, Verzilli C, Alpers MP, Whittaker JC, Collinge J. Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. Lancet Neurol. 2009 Jan;8(1):57-66. PubMed PMID: 19081515; PubMed Central PMCID: PMC2643048.

 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the PRNP gene
    Familial Creutzfeldt-Jakob Disease
    Fatal Familial Insomnia
    Genetic Prion Diseases
    Gerstmann-Straussler-Scheinker Disease
    Huntington Disease-Like 1
    5-Oxoprolinuria
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRNP
    Web search results (47 hits -- see all)
  • PrionDB Point mutations extracted from the literature
    ... PRNP Mastrangelo P et al.,2001 Q217R Not determined PRIO_CRIGR ... PRIO_HUMAN (P04156) PRNP Prusiner S et al.,1998 M129M Not determined PRIO_HUMAN (P04156) PRNP Kulczycki J et ...
    www.receptors.org/Prion/mutation/allmut_ID.html
  • BioMed Central | Full text | Surveillance for Creutzfeldt ...
    For PRNP analysis, genomic DNA was extracted from peripheral blood leukocytes by using Qiagen's DNA ... All these patients have been confirmed to be M129M homozygous. ...
    www.biomedcentral.com/1471-2458/8/360
  • Human Prion Point Mutations
    Known point variations in human prion gene coding region. Last updated ... and occurred so far only in M129M; kuru is also non-familial and mainly M129M. ...
    www.mad-cow.org/~tom/prion_point_mutations.html
  • Surveillance for Creutzfeldt-Jakob disease in China from 2006 ...
    For PRNP analysis, genomic DNA was extracted from peripheral blood leukocytes by using Qiagen's DNA ... All these patients have been confirmed to be M129M homozygous. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2596798
  • Five Alleles of Human Doppel
    Though Prnp is conserved in mammalian species, the ZrchI and Npu lines of Prnp 0 ... Patient 2 (V203I M129M c421g) was a 69-year-old male Italian patient initially ...
    www.mad-cow.org/00/doppel_alleles.html
  • Selective Neuronal Vulnerability in Human Prion Diseases ...
    ... PRNP codon 129 for methionine (M), one unknown, including four cases from a new ... 37–62 years, with PRNP genotype P102L (4/4) and M129M (3/4, one unknown) ...
    ajp.amjpathol.org/cgi/content/full/155/5/1453
  • BMC Public Health
    as previous reports, that M129M are predominant whereas M129V are seldom. ... Analyses of PRNP from 135 patients reported in CJD sur- veillance ...
    www.biomedcentral.com/content/pdf/1471-2458-8-360.pdf
  • Short Communication
    (PrP) gene (PRNP) genotype D178N; four homozygous at. the polymorphic PRNP codon 129 for ... male and 27-year-old female, M129M; kindly provided by. Dr. J. Ironside, Edinburgh, UK; ...
    ajp.amjpathol.org/cgi/reprint/155/5/1453.pdf
  • Distinctive cerebellar immunoreactivity for the prion protein ...
    Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) ... (CJD) patients with the PrP gene (PRNP) E200K mutation to 45 sporadic CJD and ...
    cat.inist.fr/?aModele=afficheN&cpsidt=14695139
  • Pharmacogenomics and Therapeutic Strategies for Dementia ...
    CYPs in Dementia: Recent advances in genomic medicine have accelerated our understanding of the pathogenesis of dementia, which could lead to improved diagnostic ...
    www.medscape.com/viewarticle/711025_6

Other in silico analyses
 

  • NBLOSUM100 score = –12
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

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