chr20:4680464:G>A Detail (hg19) (PRNP)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr20:4,680,464-4,680,464 |
hg38 | chr20:4,699,818-4,699,818 View the variant detail on this assembly version. |
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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2014-10-02 | no assertion criteria provided | Inherited Creutzfeldt-Jakob disease |
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Detail |
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2014-10-02 | no assertion criteria provided | fatal familial insomnia |
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Detail |
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2024-01-01 | criteria provided, single submitter | Huntington disease-like 1 |
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Detail |
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2023-10-13 | criteria provided, multiple submitters, no conflicts | not provided |
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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
Descrption | Source | Links |
---|---|---|
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
- hg19
- Position
- chr20:4,680,464-4,680,464
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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