chr20:4699818:G>A Detail (hg38) (PRNP)

Information

Genome

Assembly Position
hg19 chr20:4,680,464-4,680,464 View the variant detail on this assembly version.
hg38 chr20:4,699,818-4,699,818

HGVS

Type Transcript Protein
RefSeq NM_000311.3:c.598G>A NP_000302.1:p.Glu200Lys
NM_001080121.1:c.598G>A NP_001073590.1:p.Glu200Lys
NM_001080122.1:c.598G>A NP_001073591.1:p.Glu200Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 176640 OMIM
HGNC 9449 HGNC
Ensembl ENSG00000171867 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv234051866 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-10-02 no assertion criteria provided Inherited Creutzfeldt-Jakob disease germline Detail
Pathogenic 2014-10-02 no assertion criteria provided fatal familial insomnia germline Detail
Pathogenic 2024-01-01 criteria provided, single submitter Huntington disease-like 1 germline Detail
Pathogenic 2023-10-13 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.481 Prion Diseases NA CLINVAR Detail
<0.001 cerebellar ataxia Our aim was to screen for the P102L and other six known PRNP gene mutations (P10... BeFree 18566986 Detail
0.588 fatal familial insomnia NA CLINVAR Detail
0.859 Creutzfeldt-Jakob disease NA CLINVAR Detail
0.013 Acquired CJD The pattern of PrP(Sc) deposition in the brains of Tg mice was similar to that c... BeFree 11756597 Detail
0.859 Creutzfeldt-Jakob disease Three independent reports have claimed anticipation in Creutzfeldt-Jakob disease... BeFree 25279981 Detail
0.481 Prion Diseases To investigate this possibility, we looked into the time related changes of PrP ... BeFree 23922744 Detail
0.859 Creutzfeldt-Jakob disease The E200K mutation is the most frequent prion protein gene (PRNP) mutation detec... BeFree 20593190 Detail
0.013 Acquired CJD We have compared the immunomorphological spectrum of the deposition of the disea... BeFree 12677444 Detail
0.481 Prion Diseases Indeed, the phenotypical expression of two of the most common mutations in the h... BeFree 19684471 Detail
0.859 Creutzfeldt-Jakob disease Codon 129 polymorphism and the E200K mutation do not affect the cellular prion p... BeFree 20529115 Detail
0.012 Creutzfeldt-Jakob Disease, Familial A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200... BeFree 10360778 Detail
0.859 Creutzfeldt-Jakob disease Recently, we reported widespread intraneuronal prion protein (PrP) immunoreactiv... BeFree 22318125 Detail
0.859 Creutzfeldt-Jakob disease Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K muta... BeFree 10665501 Detail
0.859 Creutzfeldt-Jakob disease Creutzfeldt-Jakob disease (CJD) linked to the E200K mutation of the prion protei... BeFree 10522892 Detail
0.859 Creutzfeldt-Jakob disease Age at Death of Creutzfeldt-Jakob disease in subsequent family generation carryi... BeFree 23565236 Detail
0.600 Gerstmann-Straussler-Scheinker Disease We analysed PrP27-30 glycotypes in a large number of TSE-affected patients: 50 s... BeFree 10483920 Detail
0.859 Creutzfeldt-Jakob disease Creutzfeldt-Jakob disease (CJD) in Libyan Jews, linked to the E200K mutation in ... BeFree 11259483 Detail
0.859 Creutzfeldt-Jakob disease Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision o... BeFree 19597763 Detail
0.481 Prion Diseases Here we introduce several PRNP gene mutations (such as, PrP-KDEL, PrP-3AV, PrP-A... BeFree 21298055 Detail
0.481 Prion Diseases We have compared the immunomorphological spectrum of the deposition of the disea... BeFree 12677444 Detail
<0.001 Creutzfeldt-Jakob Disease, Sporadic The relationships between the degree of cortical prion protein (PrP) deposition,... BeFree 14507340 Detail
0.481 Prion Diseases In this study we generated prion protein fragment 90-231 bearing mutations ident... BeFree 21094273 Detail
0.013 Acquired CJD The E200K mutation is the most frequent prion protein gene (PRNP) mutation detec... BeFree 20593190 Detail
0.481 Prion Diseases Interestingly, type of prion disease (sporadic vs. genetic) and the PRNP mutatio... BeFree 24809690 Detail
0.013 Acquired CJD The study group included consecutive familial and sporadic CJD patients carrying... BeFree 20725737 Detail
0.013 Acquired CJD We identified 4 morphological types of intraneuronal PrP immunoreactivity: one t... BeFree 22318125 Detail
0.859 Creutzfeldt-Jakob disease In the Slovak CJD group 95 out of 136 CJD cases (74.2%) carried a CJD-specific m... BeFree 12197632 Detail
0.859 Creutzfeldt-Jakob disease Molecular analysis confirmed genetic CJD (PRNP E200K mutation). BeFree 23296137 Detail
0.001 Ataxia A missense mutation in codon 200 (E200K) of the PRNP was identified in this pati... BeFree 20514992 Detail
0.004 Ataxia A missense mutation in codon 200 (E200K) of the PRNP was identified in this pati... BeFree 20514992 Detail
0.859 Creutzfeldt-Jakob disease The purpose of this study was (1) to detect asymptomatic carriers of the prion p... BeFree 21508834 Detail
0.600 Gerstmann-Straussler-Scheinker Disease The stability properties of the P102L variant were indistinguishable from those ... BeFree 9813003 Detail
0.859 Creutzfeldt-Jakob disease A novel phenotype of familial Creutzfeldt-Jakob disease (CJD) with mutated codon... BeFree 10360778 Detail
<0.001 Peripheral demyelinating neuropathy We performed a study of the distribution of PrP27-30, the proteinase-K-resistant... BeFree 8780103 Detail
0.012 Creutzfeldt-Jakob Disease, Familial The pattern of PrP(Sc) deposition in the brains of Tg mice was similar to that c... BeFree 11756597 Detail
0.481 Prion Diseases Creutzfeldt-Jakob disease (CJD) in Libyan Jews, linked to the E200K mutation in ... BeFree 11259483 Detail
0.588 fatal familial insomnia The pattern of PrP(Sc) deposition in the brains of Tg mice was similar to that c... BeFree 11756597 Detail
0.588 fatal familial insomnia Here we have investigated the stability and Cu(II) binding properties of three r... BeFree 12609901 Detail
0.001 Ataxia A missense mutation in codon 200 (E200K) of the PRNP was identified in this pati... BeFree 20514992 Detail
0.012 Creutzfeldt-Jakob Disease, Familial The E200K mutation of the PRNP (prion protein) gene is the most common cause of ... BeFree 18635614 Detail
0.481 Prion Diseases Our findings indicate that the polymorphisms at PrP codon 129, the E200K mutatio... BeFree 20529115 Detail
0.859 Creutzfeldt-Jakob disease Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K... BeFree 12677444 Detail
0.588 fatal familial insomnia To test this hypothesis, we characterized the recombinant variants of human PrP(... BeFree 9813003 Detail
0.859 Creutzfeldt-Jakob disease The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PR... BeFree 20514992 Detail
0.588 fatal familial insomnia Interestingly, type of prion disease (sporadic vs. genetic) and the PRNP mutatio... BeFree 24809690 Detail
0.012 New Variant Creutzfeldt-Jakob Disease Here we report analysis of protease resistant disease-related prion protein (PrP... BeFree 16415305 Detail
0.859 Creutzfeldt-Jakob disease Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E20... BeFree 8529127 Detail
0.481 Prion Diseases The relationships between the degree of cortical prion protein (PrP) deposition,... BeFree 14507340 Detail
0.012 Creutzfeldt-Jakob Disease, Familial The present study investigates whether posttranslational modifications of cellul... BeFree 24360565 Detail
0.024 Creutzfeldt-Jakob Disease, Sporadic Intraneuronal immunoreactivity for the prion protein distinguishes a subset of E... BeFree 22318125 Detail
0.481 Prion Diseases Solution structure of the E200K variant of human prion protein. Implications for... BeFree 10954699 Detail
0.600 Gerstmann-Straussler-Scheinker Disease The F198S and E200K variants of PrP(23-231) differed in Cu(II) binding from the ... BeFree 12609901 Detail
0.859 Creutzfeldt-Jakob disease An atypical phenotype of CJD associated with the E200K mutation in the prion pro... BeFree 20730466 Detail
0.012 Creutzfeldt-Jakob Disease, Familial To gain insight into the molecular basis of these disorders, the solution struct... BeFree 10954699 Detail
0.859 Creutzfeldt-Jakob disease Slovakia is characterised by an unusually high number of patients affected by ge... BeFree 22026293 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) AND Inherited Creutzfeldt-Jakob disease ClinVar Detail
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) AND Fatal familial insomnia ClinVar Detail
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) AND Huntington disease-like 1 ClinVar Detail
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) AND not provided ClinVar Detail
NA DisGeNET Detail
Our aim was to screen for the P102L and other six known PRNP gene mutations (P105L, A117V, Y145X, E2... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The pattern of PrP(Sc) deposition in the brains of Tg mice was similar to that caused by sCJD but di... DisGeNET Detail
Three independent reports have claimed anticipation in Creutzfeldt-Jakob disease (CJD) caused by the... DisGeNET Detail
To investigate this possibility, we looked into the time related changes of PrP proteins in the brai... DisGeNET Detail
The E200K mutation is the most frequent prion protein gene (PRNP) mutation detected worldwide that i... DisGeNET Detail
We have compared the immunomorphological spectrum of the deposition of the disease-associated prion ... DisGeNET Detail
Indeed, the phenotypical expression of two of the most common mutations in the human PRNP gene assoc... DisGeNET Detail
Codon 129 polymorphism and the E200K mutation do not affect the cellular prion protein isoform compo... DisGeNET Detail
A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled w... DisGeNET Detail
Recently, we reported widespread intraneuronal prion protein (PrP) immunoreactivity in genetic Creut... DisGeNET Detail
Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation. DisGeNET Detail
Creutzfeldt-Jakob disease (CJD) linked to the E200K mutation of the prion protein (PrP) gene present... DisGeNET Detail
Age at Death of Creutzfeldt-Jakob disease in subsequent family generation carrying the E200K mutatio... DisGeNET Detail
We analysed PrP27-30 glycotypes in a large number of TSE-affected patients: 50 sporadic CJD (sCJD), ... DisGeNET Detail
Creutzfeldt-Jakob disease (CJD) in Libyan Jews, linked to the E200K mutation in PRNP (E200KCJD), is ... DisGeNET Detail
Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature. DisGeNET Detail
Here we introduce several PRNP gene mutations (such as, PrP-KDEL, PrP-3AV, PrP-A117V, PrP-G114V, PrP... DisGeNET Detail
We have compared the immunomorphological spectrum of the deposition of the disease-associated prion ... DisGeNET Detail
The relationships between the degree of cortical prion protein (PrP) deposition, tissue vacuolation ... DisGeNET Detail
In this study we generated prion protein fragment 90-231 bearing mutations identified in familial pr... DisGeNET Detail
The E200K mutation is the most frequent prion protein gene (PRNP) mutation detected worldwide that i... DisGeNET Detail
Interestingly, type of prion disease (sporadic vs. genetic) and the PRNP mutation (E200K vs. V210I a... DisGeNET Detail
The study group included consecutive familial and sporadic CJD patients carrying the E200K PRNP muta... DisGeNET Detail
We identified 4 morphological types of intraneuronal PrP immunoreactivity: one type, defined as mult... DisGeNET Detail
In the Slovak CJD group 95 out of 136 CJD cases (74.2%) carried a CJD-specific mutation in the prion... DisGeNET Detail
Molecular analysis confirmed genetic CJD (PRNP E200K mutation). DisGeNET Detail
A missense mutation in codon 200 (E200K) of the PRNP was identified in this patient; CSF 14-3-3 prot... DisGeNET Detail
A missense mutation in codon 200 (E200K) of the PRNP was identified in this patient; CSF 14-3-3 prot... DisGeNET Detail
The purpose of this study was (1) to detect asymptomatic carriers of the prion protein gene mutation... DisGeNET Detail
The stability properties of the P102L variant were indistinguishable from those of wild-type PrP, wh... DisGeNET Detail
A novel phenotype of familial Creutzfeldt-Jakob disease (CJD) with mutated codon 200 of the prion pr... DisGeNET Detail
We performed a study of the distribution of PrP27-30, the proteinase-K-resistant form of prion prote... DisGeNET Detail
The pattern of PrP(Sc) deposition in the brains of Tg mice was similar to that caused by sCJD but di... DisGeNET Detail
Creutzfeldt-Jakob disease (CJD) in Libyan Jews, linked to the E200K mutation in PRNP (E200KCJD), is ... DisGeNET Detail
The pattern of PrP(Sc) deposition in the brains of Tg mice was similar to that caused by sCJD but di... DisGeNET Detail
Here we have investigated the stability and Cu(II) binding properties of three recombinant variants ... DisGeNET Detail
A missense mutation in codon 200 (E200K) of the PRNP was identified in this patient; CSF 14-3-3 prot... DisGeNET Detail
The E200K mutation of the PRNP (prion protein) gene is the most common cause of familial Creutzfeldt... DisGeNET Detail
Our findings indicate that the polymorphisms at PrP codon 129, the E200K mutation at codon 200 or th... DisGeNET Detail
Distinctive cerebellar immunoreactivity for the prion protein in familial (E200K) Creutzfeldt-Jakob ... DisGeNET Detail
To test this hypothesis, we characterized the recombinant variants of human PrP(90-231) containing p... DisGeNET Detail
The first Chinese case of Creutzfeldt-Jakob disease with mutation of E200K in PRNP. DisGeNET Detail
Interestingly, type of prion disease (sporadic vs. genetic) and the PRNP mutation (E200K vs. V210I a... DisGeNET Detail
Here we report analysis of protease resistant disease-related prion protein (PrP(Sc)) isoforms from ... DisGeNET Detail
Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the p... DisGeNET Detail
The relationships between the degree of cortical prion protein (PrP) deposition, tissue vacuolation ... DisGeNET Detail
The present study investigates whether posttranslational modifications of cellular prion protein (Pr... DisGeNET Detail
Intraneuronal immunoreactivity for the prion protein distinguishes a subset of E200K genetic from sp... DisGeNET Detail
Solution structure of the E200K variant of human prion protein. Implications for the mechanism of pa... DisGeNET Detail
The F198S and E200K variants of PrP(23-231) differed in Cu(II) binding from the wild-type mPrP(23-23... DisGeNET Detail
An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene. DisGeNET Detail
To gain insight into the molecular basis of these disorders, the solution structure of the familial ... DisGeNET Detail
Slovakia is characterised by an unusually high number of patients affected by genetic Creutzfeldt-Ja... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs28933385 dbSNP
Genome
hg38
Position
chr20:4,699,818-4,699,818
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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