|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We used a cell model to study biosynthesis and processing of PrP(M) carrying the glutamic acid to lysine substitution at residue 200 (E200K), which is linked to the most common inherited human prion disease.
|
10934164 |
2000 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The present structural data strongly suggest that protein surface defects leading to abnormalities in the interaction of prion protein with auxiliary proteins/chaperones or cellular membranes should be considered key determinants of a spontaneous PrP(C) --> PrP(Sc) conversion in the E200K form of hereditary prion disease.
|
10954699 |
2000 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We analysed PrP27-30 glycotypes in a large number of TSE-affected patients: 50 sporadic CJD (sCJD), 1 iatrogenic CJD, 1 Gerstmann-Sträussler-Scheinker syndrome (GSS) with the Pro102Leu mutation of PrP, 3 familial CJD (fCJD) with the Glu200Lys mutation and, for the first time, 7 fCJD with the Val210ll3e mutation.
|
10483920 |
1999 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We analysed PrP27-30 glycotypes in a large number of TSE-affected patients: 50 sporadic CJD (sCJD), 1 iatrogenic CJD, 1 Gerstmann-Sträussler-Scheinker syndrome (GSS) with the Pro102Leu mutation of PrP, 3 familial CJD (fCJD) with the Glu200Lys mutation and, for the first time, 7 fCJD with the Val210ll3e mutation.
|
10483920 |
1999 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These data argue that the E200K mutation alone is sufficient to cause prion disease and does so in an age-dependent manner.
|
8529127 |
1995 |
|
rs28933385
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs74315401
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs74315403
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs74315402
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Familial forms of human prion disease include those associated with the mutations G114V and A117V, which lie in the hydrophobic domain of PrP.
|
24352465 |
2014 |
|
rs74315402
|
|
|
0.750 |
GeneticVariation |
BEFREE |
We conclude that GSS A117V is indeed a pr</span>ion disease although the relative contributions of (Ctm)PrP and prion propagation in neurodegeneration and their pathogenetic interaction remains to be established.
|
24086135 |
2013 |
|
rs74315402
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Molecular dynamics calculations demonstrated the conformational change in the prion protein due to Ala(117)-->Val mutation, which is related to Gerstmann-Sträussler-Sheinker disease, one of the familial prion diseases.
|
11964260 |
2002 |
|
rs74315402
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family.
|
11385020 |
2001 |
|
rs74315402
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene.
|
10506086 |
1999 |
|
rs74315402
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
|
|
|
|
rs74315408
|
|
|
0.740 |
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 |
|
rs74315408
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Valine-to-isoleucine substitution at codon 180 of the prion protein gene is only observed in patients with Creutzfeldt-Jakob disease and accounts for approximately half of all cases of genetic prion disease in Japan.
|
29382530 |
2018 |
|
rs74315408
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Inherited prion diseases (IPDs), including genetic Creutzfeldt-Jakob disease (gCJD), account for 10-15% of cases of prion diseases and are associated with several pathogenic mutations, including P102L, V180I, and E200K, in the prion protein gene (PRNP).
|
27341347 |
2016 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Inherited prion diseases (IPDs), including genetic Creutzfeldt-Jakob disease (gCJD), account for 10-15% of cases of prion diseases and are associated with several pathogenic mutations, including P102L, V180I, and E200K, in the prion protein gene (PRNP).
|
27341347 |
2016 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings.
|
24838726 |
2014 |
|
rs74315408
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings.
|
24838726 |
2014 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease.
|
25482600 |
2014 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Pathogenic mutations such as 102P/L, 200E/K and 203V/I were observed in discriminated CJD patients group, and 180V/I and 232M/R were shown in suspected prion disease patients group and the KARE data group.
|
22561193 |
2013 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
We retrospectively analyzed age at onset and disease duration; the concentrations and incidences of 14-3-3 protein, tau protein, and abnormal prion protein (PrP(Sc)) in the CSF of 309 gPrD patients with P102L, P105L, E200K, V180I, or M232R mutations; and brain pathology in 32 autopsied patients.
|
23555862 |
2013 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Familial Creutzfeldt-Jakob disease with V180I mutation.
|
20592908 |
2010 |
|
rs74315408
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology.
|
19703264 |
2010 |