PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Variably protease sensitive prionopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315408
rs74315408
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C4303527
Disease:
Variably protease sensitive prionopathy 		0.020 GeneticVariation BEFREE Both sporadic variably protease-sensitive prionopathy (VPSPr) and familial Creutzfeldt-Jakob disease linked to the prion protein (PrP) V180I mutation (fCJD<sup>V180I</sup>) have been found to share a unique pathological prion protein (PrP<sup>Sc</sup>) that lacks the protease-resistant PrP<sup>Sc</sup> glycosylated at residue 181 because two of four PrP glycoforms are apparently not converted into the PrP<sup>Sc</sup> from their cellular PrP (PrP<sup>C</sup>). 30612334 2019
dbSNP: rs74315408
rs74315408
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C4303527
Disease:
Variably protease sensitive prionopathy 		0.020 GeneticVariation BEFREE The familial prion disease associated with the V180I PrP gene mutation which harbors an abnormal PrP with similar electrophoretic profile might serve as a model for VPSPr. 29887135 2018