PRNP c.380G>T ;(p.G127V)

Variant ID: 20-4680246-G-T

NM_000311.3(PRNP):c.380G>T;(p.G127V)

This variant was identified in 43 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: PRNP: G127V; rs267606980
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genetic aspects of human prion diseases.

Frontiers In Neurology
Appleby, Brian S BS; Shetty, Shashirekha S; Elkasaby, Mohamed M
Publication Date: 2022

Variant appearance in text: CJD: G127V
PubMed Link: 36277922
Variant Present in the following documents:
  • Main text
  • fneur-13-1003056.pdf
View BVdb publication page



Conformation-Dependent Influences of Hydrophobic Amino Acids in Two In-Register Parallel β-Sheet Amyloids, an α-Synuclein Amyloid and a Local Structural Model of PrPSc.

Acs Omega
Otaki, Hiroki H; Taguchi, Yuzuru Y; Nishida, Noriyuki N
Publication Date: 2022-09-06

Variant appearance in text: CJD: G127V
PubMed Link: 36092583
Variant Present in the following documents:
  • Main text
  • ao2c03523.pdf
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Translational potential of base-editing tools for gene therapy of monogenic diseases.

Frontiers In Bioengineering And Biotechnology
Reshetnikov, Vasiliy V VV; Chirinskaite, Angelina V AV; Sopova, Julia V JV; Ivanov, Roman A RA; Leonova, Elena I EI
Publication Date: 2022

Variant appearance in text: PRNP: G127V
PubMed Link: 36032737
Variant Present in the following documents:
  • Main text
  • fbioe-10-942440.pdf
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Transcription-coupled donor DNA expression increases homologous recombination for efficient genome editing.

Nucleic Acids Research
Gao, Kaixuan K; Zhang, Xuedi X; Zhang, Zhenwu Z; Wu, Xiangyu X; Guo, Yan Y; Fu, Pengchong P; Sun, Angyang A; Peng, Ju J; Zheng, Jie J; Yu, Pengfei P; Wang, Tengfei T; Ye, Qinying Q; Jiang, Jingwei J; Wang, Haopeng H; Lin, Chao-Po CP; Gao, Guanjun G
Publication Date: 2022-10-28

Variant appearance in text: PRNP: G127V
PubMed Link: 35929067
Variant Present in the following documents:
  • Main text
  • gkac676.pdf
View BVdb publication page



Prion protein gene mutation detection using long-read Nanopore sequencing.

Scientific Reports
Kroll, François F; Dimitriadis, Athanasios A; Campbell, Tracy T; Darwent, Lee L; Collinge, John J; Mead, Simon S; Vire, Emmanuelle E
Publication Date: 2022-05-18

Variant appearance in text: CJD: G127V
PubMed Link: 35585119
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_12130.pdf
View BVdb publication page



Detecting early stage structural changes in wild type, pathogenic and non-pathogenic prion variants using Markov state model.

Rsc Advances
Jani, Vinod V; Sonavane, Uddhavesh U; Joshi, Rajendra R
Publication Date: 2019-05-07

Variant appearance in text: CJD: G127V
PubMed Link: 35519320
Variant Present in the following documents:
  • Main text
  • RA-009-C9RA01507H.pdf
View BVdb publication page



Chronic Wasting Disease (CWD) in Cervids and the Consequences of a Mutable Protein Conformation.

Acs Omega
Silva, Christopher J CJ
Publication Date: 2022-04-19

Variant appearance in text: PRNP: G127V
PubMed Link: 35465121
Variant Present in the following documents:
  • Main text
  • ao2c00155.pdf
View BVdb publication page



Association Study of the M132L Single Nucleotide Polymorphism With Susceptibility to Chronic Wasting Disease in Korean Elk: A Meta-Analysis.

Frontiers In Veterinary Science
Roh, In-Soon IS; Kim, Yong-Chan YC; Won, Sae-Young SY; Park, Kyung-Je KJ; Park, Hoo-Chang HC; Hwang, Ji-Yong JY; Kang, Hae-Eun HE; Sohn, Hyun-Joo HJ; Jeong, Byung-Hoon BH
Publication Date: 2021

Variant appearance in text: CJD: G127V
PubMed Link: 35097050
Variant Present in the following documents:
  • Main text
  • fvets-08-804325.pdf
View BVdb publication page



Zn(II) binding causes interdomain changes in the structure and flexibility of the human prion protein.

Scientific Reports
Gielnik, Maciej M; Taube, Michał M; Zhukova, Lilia L; Zhukov, Igor I; Wärmländer, Sebastian K T S SKTS; Svedružić, Željko Ž; Kwiatek, Wojciech M WM; Gräslund, Astrid A; Kozak, Maciej M
Publication Date: 2021-11-04

Variant appearance in text: CJD: G127V
PubMed Link: 34737343
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_495.pdf
View BVdb publication page



Zn(II) binding causes interdomain changes in the structure and flexibility of the human prion protein.

Scientific Reports
Gielnik, Maciej M; Taube, Michał M; Zhukova, Lilia L; Zhukov, Igor I; Wärmländer, Sebastian K T S SKTS; Svedružić, Željko Ž; Kwiatek, Wojciech M WM; Gräslund, Astrid A; Kozak, Maciej M
Publication Date: 2021-11-04

Variant appearance in text: CJD: G127V
PubMed Link: 34737343
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_495.pdf
View BVdb publication page



Enhanced prime editing systems by manipulating cellular determinants of editing outcomes.

Cell
Chen, Peter J PJ; Hussmann, Jeffrey A JA; Yan, Jun J; Knipping, Friederike F; Ravisankar, Purnima P; Chen, Pin-Fang PF; Chen, Cidi C; Nelson, James W JW; Newby, Gregory A GA; Sahin, Mustafa M; Osborn, Mark J MJ; Weissman, Jonathan S JS; Adamson, Britt B; Liu, David R DR
Publication Date: 2021-10-28

Variant appearance in text: PRNP: G127V
PubMed Link: 34653350
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Review on PRNP genetics and susceptibility to chronic wasting disease of Cervidae.

Veterinary Research
Moazami-Goudarzi, Katayoun K; Andréoletti, Olivier O; Vilotte, Jean-Luc JL; Béringue, Vincent V
Publication Date: 2021-10-07

Variant appearance in text: CJD: G127V
PubMed Link: 34620247
Variant Present in the following documents:
  • Main text
View BVdb publication page



Engineered pegRNAs improve prime editing efficiency.

Nature Biotechnology
Nelson, James W JW; Randolph, Peyton B PB; Shen, Simon P SP; Everette, Kelcee A KA; Chen, Peter J PJ; Anzalone, Andrew V AV; An, Meirui M; Newby, Gregory A GA; Chen, Jonathan C JC; Hsu, Alvin A; Liu, David R DR
Publication Date: 2022-03

Variant appearance in text: PRNP: G127V
PubMed Link: 34608327
Variant Present in the following documents:
  • Main text
  • NIHMS1729173-supplement-Sup_tab.xlsx, sheet 6
  • nihms-1729173.pdf
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How an Infection of Sheep Revealed Prion Mechanisms in Alzheimer's Disease and Other Neurodegenerative Disorders.

International Journal Of Molecular Sciences
Carlson, George A GA; Prusiner, Stanley B SB
Publication Date: 2021-05-04

Variant appearance in text: PRNP: G127V
PubMed Link: 34064393
Variant Present in the following documents:
  • Main text
View BVdb publication page



The G127V variant of the prion protein interferes with dimer formation in vitro but not in cellulo.

Scientific Reports
Sangeetham, Sudheer Babu SB; Engelke, Anna Dorothee AD; Fodor, Elfrieda E; Krausz, Sarah Laura SL; Tatzelt, Jörg J; Welker, Ervin E
Publication Date: 2021-02-04

Variant appearance in text: PRNP: G127V
PubMed Link: 33542378
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_82647.pdf
View BVdb publication page



One-Step Homology Mediated CRISPR-Cas Editing in Zygotes for Generating Genome Edited Cattle.

The Crispr Journal
Park, Ki-Eun KE; Frey, Juli Foster JF; Waters, Jerel J; Simpson, Sean G SG; Coutu, Chris C; Plummer, Sarah S; Campbell, Matthew M; Donovan, David M DM; Telugu, Bhanu P BP
Publication Date: 2020-12

Variant appearance in text: PRNP: G127V
PubMed Link: 33252243
Variant Present in the following documents:
  • Main text
  • crispr.2020.0047.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: G127V
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Structural effects of the highly protective V127 polymorphism on human prion protein.

Communications Biology
Hosszu, Laszlo L P LLP; Conners, Rebecca R; Sangar, Daljit D; Batchelor, Mark M; Sawyer, Elizabeth B EB; Fisher, Stuart S; Cliff, Matthew J MJ; Hounslow, Andrea M AM; McAuley, Katherine K; Leo Brady, R R; Jackson, Graham S GS; Bieschke, Jan J; Waltho, Jonathan P JP; Collinge, John J
Publication Date: 2020-07-29

Variant appearance in text: PRNP: G127V
PubMed Link: 32728168
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1126.pdf
  • 42003_2020_1126_MOESM5_ESM.pdf
View BVdb publication page



Five novel PRNP gene polymorphisms and their potential effect on Scrapie susceptibility in three native Ethiopian sheep breeds.

Bmc Veterinary Research
Teferedegn, Eden Yitna EY; Yaman, Yalcin Y; Un, Cemal C
Publication Date: 2020-04-29

Variant appearance in text: PRNP: G127V
PubMed Link: 32349749
Variant Present in the following documents:
  • Main text
View BVdb publication page



Using NMR spectroscopy to investigate the role played by copper in prion diseases.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology
Alsiary, Rawiah A RA; Alghrably, Mawadda M; Saoudi, Abdelhamid A; Al-Ghamdi, Suliman S; Jaremko, Lukasz L; Jaremko, Mariusz M; Emwas, Abdul-Hamid AH
Publication Date: 2020-09

Variant appearance in text: CJD: G127V
PubMed Link: 32328835
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cryo-EM structure of a human prion fibril with a hydrophobic, protease-resistant core.

Nature Structural & Molecular Biology
Glynn, Calina C; Sawaya, Michael R MR; Ge, Peng P; Gallagher-Jones, Marcus M; Short, Connor W CW; Bowman, Ronquiajah R; Apostol, Marcin M; Zhou, Z Hong ZH; Eisenberg, David S DS; Rodriguez, Jose A JA
Publication Date: 2020-05

Variant appearance in text: CJD: G127V
PubMed Link: 32284600
Variant Present in the following documents:
  • Main text
  • nihms-1569853.pdf
View BVdb publication page



Search-and-replace genome editing without double-strand breaks or donor DNA.

Nature
Anzalone, Andrew V AV; Randolph, Peyton B PB; Davis, Jessie R JR; Sousa, Alexander A AA; Koblan, Luke W LW; Levy, Jonathan M JM; Chen, Peter J PJ; Wilson, Christopher C; Newby, Gregory A GA; Raguram, Aditya A; Liu, David R DR
Publication Date: 2019-12

Variant appearance in text: PRNP: G127V
PubMed Link: 31634902
Variant Present in the following documents:
  • Main text
  • nihms-1541141.pdf
View BVdb publication page



Transition of the prion protein from a structured cellular form (PrPC ) to the infectious scrapie agent (PrPSc ).

Protein Science : A Publication Of The Protein Society
Baral, Pravas K PK; Yin, Jiang J; Aguzzi, Adriano A; James, Michael N G MNG
Publication Date: 2019-12

Variant appearance in text: PRNP: G127V
PubMed Link: 31583788
Variant Present in the following documents:
  • Main text
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: PRNP: Gly127Val
PubMed Link: 31340582
Variant Present in the following documents:
  • Main text
  • ijms-20-03606.pdf
View BVdb publication page



Kuru, the First Human Prion Disease.

Viruses
Liberski, Paweł P PP; Gajos, Agata A; Sikorska, Beata B; Lindenbaum, Shirley S
Publication Date: 2019-03-07

Variant appearance in text: CJD: G127V
PubMed Link: 30866511
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pressure Reveals Unique Conformational Features in Prion Protein Fibril Diversity.

Scientific Reports
Torrent, Joan J; Martin, Davy D; Noinville, Sylvie S; Yin, Yi Y; Doumic, Marie M; Moudjou, Mohammed M; Béringue, Vincent V; Rezaei, Human H
Publication Date: 2019-02-26

Variant appearance in text: PRNP: G127V
PubMed Link: 30808892
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_39261.pdf
View BVdb publication page



Structural basis for the complete resistance of the human prion protein mutant G127V to prion disease.

Scientific Reports
Zheng, Zhen Z; Zhang, Meilan M; Wang, Yongheng Y; Ma, Rongsheng R; Guo, Chenyun C; Feng, Liubin L; Wu, Jihui J; Yao, Hongwei H; Lin, Donghai D
Publication Date: 2018-09-04

Variant appearance in text: CJD: G127V
PubMed Link: 30181558
Variant Present in the following documents:
  • Main text
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: PRNP: G127V
PubMed Link: 30147320
Variant Present in the following documents:
  • Main text
  • ndt-14-2067.pdf
View BVdb publication page



Behind the potential evolution towards prion resistant species.

Prion
Fernández-Borges, Natalia N; Eraña, Hasier H; Castilla, Joaquín J
Publication Date: 2018-03-04

Variant appearance in text: PRNP: Gly127Val
PubMed Link: 29388474
Variant Present in the following documents:
  • Main text
View BVdb publication page



What's next for genomics and prion diseases?

Future Science Oa
Booth, Stephanie A SA
Publication Date: 2017-08

Variant appearance in text: PRNP: G127V
PubMed Link: 28883991
Variant Present in the following documents:
  • Main text
  • fsoa-03-188.pdf
View BVdb publication page



Cultural factors that affected the spatial and temporal epidemiology of kuru.

Royal Society Open Science
Whitfield, J T JT; Pako, W H WH; Collinge, J J; Alpers, M P MP
Publication Date: 2017-01

Variant appearance in text: PRNP: G127V
PubMed Link: 28280581
Variant Present in the following documents:
  • Main text
  • rsos160789.pdf
View BVdb publication page



Prion disease: experimental models and reality.

Acta Neuropathologica
Brandner, Sebastian S; Jaunmuktane, Zane Z
Publication Date: 2017-02

Variant appearance in text: PRNP: G127V
PubMed Link: 28084518
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Genetics of Neurodegenerative Dementias.

Cold Spring Harbor Perspectives In Biology
Hinz, Flora I FI; Geschwind, Daniel H DH
Publication Date: 2017-04-03

Variant appearance in text: PRNP: G127V
PubMed Link: 27940516
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: PRNP: G127V
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



Structural transitions in full-length human prion protein detected by xenon as probe and spin labeling of the N-terminal domain.

Scientific Reports
Narayanan, Sunilkumar Puthenpurackal SP; Nair, Divya Gopalakrishnan DG; Schaal, Daniel D; Barbosa de Aguiar, Marisa M; Wenzel, Sabine S; Kremer, Werner W; Schwarzinger, Stephan S; Kalbitzer, Hans Robert HR
Publication Date: 2016-06-24

Variant appearance in text: CJD: G127V
PubMed Link: 27341298
Variant Present in the following documents:
  • Main text
  • srep28419.pdf
View BVdb publication page



Protective V127 prion variant prevents prion disease by interrupting the formation of dimer and fibril from molecular dynamics simulations.

Scientific Reports
Zhou, Shuangyan S; Shi, Danfeng D; Liu, Xuewei X; Liu, Huanxiang H; Yao, Xiaojun X
Publication Date: 2016-02-24

Variant appearance in text: PRNP: G127V
PubMed Link: 26906032
Variant Present in the following documents:
  • Main text
  • srep21804.pdf
View BVdb publication page



Deer Prion Proteins Modulate the Emergence and Adaptation of Chronic Wasting Disease Strains.

Journal Of Virology
Duque Velásquez, Camilo C; Kim, Chiye C; Herbst, Allen A; Daude, Nathalie N; Garza, Maria Carmen MC; Wille, Holger H; Aiken, Judd J; McKenzie, Debbie D
Publication Date: 2015-12

Variant appearance in text: PRNP: G127V
PubMed Link: 26423950
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.

Neuropsychiatric Disease And Treatment
Ch'ng, Gaik-Siew GS; An, Seong Soo A SS; Bae, Sun Oh SO; Bagyinszky, Eva E; Kim, SangYun S
Publication Date: 2015

Variant appearance in text: PRNP: G127V; rs267606980
PubMed Link: 26396515
Variant Present in the following documents:
  • Main text
View BVdb publication page



A naturally occurring variant of the human prion protein completely prevents prion disease.

Nature
Asante, Emmanuel A EA; Smidak, Michelle M; Grimshaw, Andrew A; Houghton, Richard R; Tomlinson, Andrew A; Jeelani, Asif A; Jakubcova, Tatiana T; Hamdan, Shyma S; Richard-Londt, Angela A; Linehan, Jacqueline M JM; Brandner, Sebastian S; Alpers, Michael M; Whitfield, Jerome J; Mead, Simon S; Wadsworth, Jonathan D F JD; Collinge, John J
Publication Date: 2015-06-25

Variant appearance in text: PRNP: G127V
PubMed Link: 26061765
Variant Present in the following documents:
  • Main text
  • emss-63379.pdf
View BVdb publication page