PRNP c.587A>C ;(p.E196A)

Variant ID: 20-4680453-A-C

NM_000311.3(PRNP):c.587A>C;(p.E196A)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt-Jakob Disease.

Viruses
Kong, Yu Y; Chen, Zhongyun Z; Zhang, Jing J; Wang, Xue X; Wu, Liyong L
Publication Date: 2023-04-29

Variant appearance in text: PRNP: E196A
PubMed Link: 37243178
Variant Present in the following documents:
  • Main text
  • viruses-15-01092.pdf
View BVdb publication page



Prion Mutations in Republic of Republic of Korea, China, and Japan.

International Journal Of Molecular Sciences
Kim, Dan Yeong DY; Shim, Kyu Hwan KH; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2022-12-30

Variant appearance in text: PRNP: E196A
PubMed Link: 36614069
Variant Present in the following documents:
  • Main text
  • ijms-24-00625.pdf
View BVdb publication page



Characteristics of Different Types of Prion Diseases - China's Surveillance.

China Cdc Weekly
Shi, Qi Q; Chen, Cao C; Xiao, Kang K; Zhou, Wei W; Gao, Chen C; Gao, Liping L; Han, Jun J; Wang, Jichun J; Dong, Xiaoping X
Publication Date: 2022-08-19

Variant appearance in text: CJD: E196A
PubMed Link: 36285115
Variant Present in the following documents:
  • Main text
  • ccdcw-4-33-723.pdf
View BVdb publication page



Erythrocyte Indices in Creutzfeldt-Jakob Disease Predict Survival Time.

Frontiers In Neurology
Kong, Yu Y; Chen, Zhongyun Z; Zhang, Jing J; Wu, Liyong L
Publication Date: 2022

Variant appearance in text: CJD: E196A
PubMed Link: 35237232
Variant Present in the following documents:
  • fneur-13-839081.pdf
View BVdb publication page



Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP: comparative analysis of patients identified in the Chinese National CJD Surveillance System.

Bmj Open
Shi, Qi Q; Xiao, Kang K; Chen, Cao C; Zhou, Wei W; Gao, Li-Ping LP; Wu, Yue-Zhang YZ; Wang, Yuan Y; Hu, Chao C; Gao, Chen C; Dong, Xiao-Ping XP
Publication Date: 2021-11-15

Variant appearance in text: CJD: E196A
PubMed Link: 34782343
Variant Present in the following documents:
  • Main text
  • bmjopen-2021-054551.draft_revisions.pdf
  • bmjopen-2021-054551.pdf
  • bmjopen-2021-054551.reviewer_comments.pdf
View BVdb publication page



Xiaoping Dong, China CDC's Chief Expert of Virology.

China Cdc Weekly
Chen, Yu Y; Hao, Peter P; Liu, Nankun N; Li, Zhenjun Z; Xi, Jingjing J; Tan, Feng F
Publication Date: 2021-05-07

Variant appearance in text: CJD: E196A
PubMed Link: 34594897
Variant Present in the following documents:
  • ccdcw-3-19-414.pdf
View BVdb publication page



Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.

Acta Neuropathologica
Baiardi, Simone S; Rossi, Marcello M; Mammana, Angela A; Appleby, Brian S BS; Barria, Marcelo A MA; Calì, Ignazio I; Gambetti, Pierluigi P; Gelpi, Ellen E; Giese, Armin A; Ghetti, Bernardino B; Herms, Jochen J; Ladogana, Anna A; Mikol, Jacqueline J; Pal, Suvankar S; Ritchie, Diane L DL; Ruf, Viktoria V; Windl, Otto O; Capellari, Sabina S; Parchi, Piero P
Publication Date: 2021-10

Variant appearance in text: PRNP: E196A
PubMed Link: 34324063
Variant Present in the following documents:
  • Main text
  • 401_2021_2350_MOESM1_ESM.pdf
  • 401_2021_Article_2350.pdf
View BVdb publication page



Incidence of and Mortality Due to Human Prion Diseases in Taiwan: A Prospective 20-Year Nationwide Surveillance Study from 1998 to 2017.

Clinical Epidemiology
Sun, Yu Y; Liu, Chih-Ching CC; Fan, Ling-Yun LY; Huang, Chung-Te CT; Chen, Ta-Fu TF; Lu, Chien-Jung CJ; Guo, Wan-Yuo WY; Chang, Yang-Chyuan YC; Chiu, Ming-Jang MJ
Publication Date: 2020

Variant appearance in text: CJD: E196A
PubMed Link: 33116901
Variant Present in the following documents:
  • Main text
  • clep-12-1073.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: PRNP: E196A
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.

Cells
Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH
Publication Date: 2020-06-17

Variant appearance in text: CJD: E196A
PubMed Link: 32560489
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare genetic E196A mutation in a patient with Creutzfeldt-Jakob disease: a case report and literature.

Prion
Wu, Xiping X; Cui, Zhao Z; Guomin, Xie X; Wang, Haifeng H; Zhang, Xiaoling X; Li, Zhiguang Z; Sun, Qi Q; Qi, Feiteng F
Publication Date: 2020-12

Variant appearance in text: CJD: 587A>C
PubMed Link: 32501129
Variant Present in the following documents:
  • Main text
  • KPRN_14_1769528.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: PRNP: 587A>C; rs769346296
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Structural insight into conformational change in prion protein by breakage of electrostatic network around H187 due to its protonation.

Scientific Reports
Lee, Juhwan J; Chang, Iksoo I
Publication Date: 2019-12-17

Variant appearance in text: PRNP: E196A
PubMed Link: 31848406
Variant Present in the following documents:
  • 41598_2019_Article_55808.pdf
View BVdb publication page



Profiles of 14-3-3 and Total Tau in CSF Samples of Chinese Patients of Different Genetic Prion Diseases.

Frontiers In Neuroscience
Chen, Cao C; Hu, Chao C; Shi, Qi Q; Zhou, Wei W; Xiao, Kang K; Wang, Yuan Y; Liu, Lian L; Chen, Jia J; Xia, Ying Y; Dong, Xiao-Ping XP
Publication Date: 2019

Variant appearance in text: CJD: E196A
PubMed Link: 31551692
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease.

Clinical Interventions In Aging
Bagyinszky, Eva E; Yang, YoungSoon Y; Giau, Vo Van VV; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019

Variant appearance in text: PRNP: Glu196Ala
PubMed Link: 31447551
Variant Present in the following documents:
  • Main text
  • cia-14-1387.pdf
View BVdb publication page



Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.

International Journal Of Molecular Sciences
Bernardi, Livia L; Bruni, Amalia C AC
Publication Date: 2019-07-23

Variant appearance in text: CJD: Glu196Ala
PubMed Link: 31340582
Variant Present in the following documents:
  • Main text
  • ijms-20-03606.pdf
View BVdb publication page



Rare genetic Creutzfeldt-Jakob disease with E196A mutation: a case report.

Prion
Dai, Yanyuan Y; Lang, Yue Y; Ding, Mingxuan M; Zhang, Baizhuo B; Han, Xiaoou X; Duan, Guangyu G; Cui, Li L
Publication Date: 2019-01

Variant appearance in text: PRNP: E196A
PubMed Link: 31238786
Variant Present in the following documents:
  • Main text
  • kprn-13-01-1631679.pdf
View BVdb publication page



Tumor mutation burden and recurrent tumors in hereditary lung cancer.

Cancer Medicine
Hsu, Yi-Chiung YC; Chang, Ya-Hsuan YH; Chang, Gee-Chen GC; Ho, Bing-Ching BC; Yuan, Shin-Sheng SS; Li, Yu-Cheng YC; Zeng, Jhih-Wun JW; Yu, Sung-Liang SL; Li, Ker-Chau KC; Yang, Pan-Chyr PC; Chen, Hsuan-Yu HY
Publication Date: 2019-05

Variant appearance in text: PRNP: E196A
PubMed Link: 30941903
Variant Present in the following documents:
  • CAM4-8-2179-s001.xlsx, sheet 2
View BVdb publication page



Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.

Neuropsychiatric Disease And Treatment
Bagyinszky, Eva E; Giau, Vo Van VV; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2018

Variant appearance in text: CJD: E196A
PubMed Link: 30147320
Variant Present in the following documents:
  • Main text
  • ndt-14-2067.pdf
View BVdb publication page



Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Takada, Leonel T LT; Kim, Mee-Ohk MO; Cleveland, Ross W RW; Wong, Katherine K; Forner, Sven A SA; Gala, Ignacio Illán II; Fong, Jamie C JC; Geschwind, Michael D MD
Publication Date: 2017-01

Variant appearance in text: PRNP: E196A
PubMed Link: 27943639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease.

Prion
Shi, Qi Q; Zhou, Wei W; Chen, Cao C; Zhang, Bao-Yun BY; Xiao, Kang K; Wang, Yuan Y; Dong, Xiao-Ping XP
Publication Date: 2016-07-03

Variant appearance in text: PRNP: E196A
PubMed Link: 27310471
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantifying prion disease penetrance using large population control cohorts.

Science Translational Medicine
Minikel, Eric Vallabh EV; Vallabh, Sonia M SM; Lek, Monkol M; Estrada, Karol K; Samocha, Kaitlin E KE; Sathirapongsasuti, J Fah JF; McLean, Cory Y CY; Tung, Joyce Y JY; Yu, Linda P C LP; Gambetti, Pierluigi P; Blevins, Janis J; Zhang, Shulin S; Cohen, Yvonne Y; Chen, Wei W; Yamada, Masahito M; Hamaguchi, Tsuyoshi T; Sanjo, Nobuo N; Mizusawa, Hidehiro H; Nakamura, Yosikazu Y; Kitamoto, Tetsuyuki T; Collins, Steven J SJ; Boyd, Alison A; Will, Robert G RG; Knight, Richard R; Ponto, Claudia C; Zerr, Inga I; Kraus, Theo F J TF; Eigenbrod, Sabina S; Giese, Armin A; Calero, Miguel M; de Pedro-Cuesta, Jesús J; Haïk, Stéphane S; Laplanche, Jean-Louis JL; Bouaziz-Amar, Elodie E; Brandel, Jean-Philippe JP; Capellari, Sabina S; Parchi, Piero P; Poleggi, Anna A; Ladogana, Anna A; O'Donnell-Luria, Anne H AH; Karczewski, Konrad J KJ; Marshall, Jamie L JL; Boehnke, Michael M; Laakso, Markku M; Mohlke, Karen L KL; Kähler, Anna A; Chambert, Kimberly K; McCarroll, Steven S; Sullivan, Patrick F PF; Hultman, Christina M CM; Purcell, Shaun M SM; Sklar, Pamela P; van der Lee, Sven J SJ; Rozemuller, Annemieke A; Jansen, Casper C; Hofman, Albert A; Kraaij, Robert R; van Rooij, Jeroen G J JG; Ikram, M Arfan MA; Uitterlinden, André G AG; van Duijn, Cornelia M CM; , ; Daly, Mark J MJ; MacArthur, Daniel G DG
Publication Date: 2016-01-20

Variant appearance in text: PRNP: E196A
PubMed Link: 26791950
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Features of Genetic Prion Diseases Based on Chinese Surveillance Program.

Plos One
Shi, Qi Q; Zhou, Wei W; Chen, Cao C; Zhang, Bao-Yun BY; Xiao, Kang K; Zhang, Xiu-Chun XC; Shen, Xiao-Jing XJ; Li, Qing Q; Deng, Li-Quan LQ; Dong, Jian-Hua JH; Lin, Wen-Qing WQ; Huang, Pu P; Jiang, Wei-Jia WJ; Lv, Jie J; Han, Jun J; Dong, Xiao-Ping XP
Publication Date: 2015

Variant appearance in text: CJD: E196A
PubMed Link: 26488179
Variant Present in the following documents:
  • Main text
  • pone.0139552.pdf
View BVdb publication page