||Codes for the Prion Protein E200K pathogenic mutation
||Prion protein Codon 200 (E) - Non pathogenic variant
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:
[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.