rs28933385
| Orientation | plus |
| Stabilized | plus |
| 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) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 4699818 |
| Gene | PRNP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28933385 |
| dbSNP (classic) | rs28933385 |
| ClinGen | rs28933385 |
| ebi | rs28933385 |
| HLI | rs28933385 |
| Exac | rs28933385 |
| Gnomad | rs28933385 |
| Varsome | rs28933385 |
| LitVar | rs28933385 |
| Map | rs28933385 |
| PheGenI | rs28933385 |
| Biobank | rs28933385 |
| 1000 genomes | rs28933385 |
| hgdp | rs28933385 |
| ensembl | rs28933385 |
| geneview | rs28933385 |
| scholar | rs28933385 |
| rs28933385 | |
| pharmgkb | rs28933385 |
| gwascentral | rs28933385 |
| openSNP | rs28933385 |
| 23andMe | rs28933385 |
| SNPshot | rs28933385 |
| SNPdbe | rs28933385 |
| MSV3d | rs28933385 |
| GWAS Ctlg | rs28933385 |
| Max Magnitude | 4 |
| 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 UniProtKB (protein) |
| CLNACC | RCV000014334.28, RCV000014335.23, 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 10889050
] Age and origin of the PRNP E200K mutation causing familial Creutzfeldt-Jacob disease in Libyan Jews.
