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rs28933385

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Codes for the Prion Protein E200K pathogenic mutation
(G;G) 0 Prion protein Codon 200 (E) - Non pathogenic variant


Make rs28933385(A;A)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699818
GenePRNP
is asnp
is mentioned by
dbSNPrs28933385
ebirs28933385
HLIrs28933385
Exacrs28933385
Varsomers28933385
Maprs28933385
PheGenIrs28933385
hapmaprs28933385
1000 genomesrs28933385
hgdprs28933385
ensemblrs28933385
gopubmedrs28933385
geneviewrs28933385
scholarrs28933385
googlers28933385
pharmgkbrs28933385
gwascentralrs28933385
openSNPrs28933385
23andMers28933385
23andMe allrs28933385
SNP Nexus

SNPshotrs28933385
SNPdbers28933385
MSV3drs28933385
GWAS Ctlgrs28933385
Max Magnitude4
OMIM176640
DescCREUTZFELDT-JAKOB DISEASE
Variant0006
Relatedalso
Neighborrs16990018
Distance86


ClinVar
Risk rs28933385(A;A)
Alt rs28933385(A;A)
Reference rs28933385(G;G)
Significance Pathogenic
Disease Jakob-Creutzfeldt disease Fatal familial insomnia Genetic prion diseases
Variation info
Gene PRNP
CLNDBN Jakob-Creutzfeldt disease Fatal familial insomnia Genetic prion diseases
Reversed 0
HGVS NC_000020.10:g.4680464G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014334.27, RCV000014335.22, RCV000020253.1,



This SNP affects codon 200 of the Prion Protein gene. Normally a Glutamate, a polymorphism can cause the E200K mutation, which leads to inherited Creuzfeldt-Jakob Disease. The E200K mutation is one of the most common pathogenic Prion disease mutations, with penetrance estimated at 0.56 [PMID 7999318].

The E200K mutation has also been associated with Fatal Familial Insomnia when combined with a codon 129 MM genotype Rs1799990 [PMID 8618678]

Some example publications:[edit]

[PMID 1351274] Transmission of spongiform encephalopathy from a familial Creutzfeldt-Jakob disease patient of Jewish Libyan origin carrying the PRNP codon 200 mutation.

[PMID 1404799] Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy.

[PMID 1469441] Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20.

[PMID 1798423] Genetic and environmental factors determining the development of Creutzfeldt-Jakob disease in Libyan Jews.

[PMID 7936296] The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation.

[PMID 10889050OA-icon.png] Age and origin of the PRNP E200K mutation causing familial Creutzfeldt-Jacob disease in Libyan Jews.