Variant: rs28933385 

    present in Gene: PRNP
    present in Chromosome: 20
    Position on Chromosome: 4699818
    Alleles of this Variant: G/A

rs28933385 in PRNP gene and Creutzfeldt-Jakob disease PMID 7902693 1993 A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.

PMID 7913755 1994 Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.

PMID 8461023 1993 Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 19927125 2010 Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.

PMID 1439789 1992 Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.

PMID 1975028 1990 Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia.

PMID 1671440 1991 New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.

PMID 10790216 2000 Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.

PMID 7906019 1994 Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.

PMID 8909447 1996 Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.

rs28933385 in PRNP gene and HUNTINGTON DISEASE-LIKE 1 PMID 22072968 2011 Fatal prion disease in a mouse model of genetic E200K Creutzfeldt-Jakob disease.

PMID 20514992 2010 The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PRNP.

PMID 22318125 2012 Intraneuronal immunoreactivity for the prion protein distinguishes a subset of E200K genetic from sporadic Creutzfeldt-Jakob Disease.

PMID 23296137 2013 Teaching neuroimages: Pseudohypertrophic cerebral cortex in end-stage Creutzfeldt-Jakob disease.

PMID 27803826 2016 A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset.

PMID 9813003 1998 Familial mutations and the thermodynamic stability of the recombinant human prion protein.

PMID 25522698 2015 Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD.

PMID 20593190 2011 Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy.

PMID 15366237 2004 "[Creutzfeldt-Jakob encephalopathy with mutation E200K. Report of a ""sporadic"" case]."

PMID 22584955 2012 Codon 200 mutation of the prion gene: genotype-phenotype correlations.

PMID 11756597 2001 Inherited prion disease caused by the V210I mutation: transmission to transgenic mice.

PMID 20139714 2010 Fragment molecular orbital calculations reveal that the E200K mutation markedly alters local structural stability in the human prion protein.

PMID 11839833 2002 Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease.

PMID 25064618 2014 A pilot study of a genetic CJD risk factor (E200K) in the general Slovak population.

PMID 17494694 2007 Defective retrotranslocation causes loss of anti-Bax function in human familial prion protein mutants.

PMID 23132868 2012 Disease-associated mutations in the prion protein impair laminin-induced process outgrowth and survival.

PMID 14967768 2004 When sporadic disease is not sporadic: the potential for genetic etiology.

PMID 2572450 1989 Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome.

PMID 21298055 2011 Familial CJD associated PrP mutants within transmembrane region induced Ctm-PrP retention in ER and triggered apoptosis by ER stress in SH-SY5Y cells.

PMID 10360778 1999 A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein.

PMID 23723004 2013 In silico analysis of prion protein mutants: a comparative study by molecular dynamics approach.

PMID 26791950 2016 Quantifying prion disease penetrance using large population control cohorts.