rs28933385
A SNP in the PRNP gene on chromosome 20. Its most notable genotype is A;G: Codes for the Prion Protein E200K pathogenic mutation
- Gene
- PRNP
- Location
- Chr 204,699,818 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadCodes for the Prion Protein E200K pathogenic mutation
- G;GGoodPrion protein Codon 200 (E) - Non pathogenic variant
On SNPedia: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PRNP SNPs
- rs74315405C;TGerstmann–Straussler–Scheinker syndromeVery important
- rs74315401C;TGerstmann–Straussler–Scheinker syndromeVery important
- rs74315402C;TGerstmann–Straussler–Scheinker syndromeVery important
- rs74315406A;GGerstmann–Straussler–Scheinker syndromeVery important
- rs74315410G;TGerstmann–Straussler–Scheinker syndromeVery important
- rs74315413A;GGerstmann–Straussler–Scheinker syndromeVery important
- rs74315414A;CGerstmann–Straussler–Scheinker syndromeVery important
- rs74315415C;TGerstmann–Straussler–Scheinker syndromeVery important
Notes
From SNPedia
Show notes, about 210 words
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 . The E200K mutation has also been associated with Fatal Familial Insomnia when combined with a codon 129 MM genotype Rs1799990 ==Some example publications:== Transmission of spongiform encephalopathy from a familial Creutzfeldt-Jakob disease patient of Jewish Libyan origin carrying the PRNP codon 200 mutation. Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy. Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20. Genetic and environmental factors determining the development of Creutzfeldt-Jakob disease in Libyan Jews. The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation. Age and origin of the PRNP E200K mutation causing familial Creutzfeldt-Jacob disease in Libyan Jews.
A;G
This SNP produces a heterozygous E200K mutation within the Prion Protein. This mutation has been associated with the development of inherited Prion disease.
Source and license
Adapted from rs28933385 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.