[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/en\/wiki21\/protein-truncating-variants-wikipedia\/#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/en\/wiki21\/protein-truncating-variants-wikipedia\/","headline":"Protein-truncating variants – Wikipedia","name":"Protein-truncating variants – Wikipedia","description":"before-content-x4 From Wikipedia, the free encyclopedia after-content-x4 Protein-truncating variants (PTVs) are genetic variants predicted to shorten the coding sequence of","datePublished":"2014-07-21","dateModified":"2014-07-21","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/en\/wiki21\/author\/lordneo\/#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/en\/wiki21\/author\/lordneo\/","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c9645c498c9701c88b89b8537773dd7c?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","url":"https:\/\/en.wikipedia.org\/wiki\/Special:CentralAutoLogin\/start?type=1x1","height":"1","width":"1"},"url":"https:\/\/wiki.edu.vn\/en\/wiki21\/protein-truncating-variants-wikipedia\/","wordCount":2742,"articleBody":"     (adsbygoogle = window.adsbygoogle || []).push({});before-content-x4From Wikipedia, the free encyclopedia       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Protein-truncating variants (PTVs) are genetic variants predicted to shorten the coding sequence of genes,[1] through ways like a stop-gain mutation.[2][3][4][5] PTV is sometime categorized under the umbrella term frameshift or truncating variants (FTVs), which includes both PTVs and DNA variants caused by frameshift mutation.Implication in diseases\/disorders[edit]It was believed that protein-truncating variants are not associated with human diseases.[2] Recent studies have implied the involvement of PTVs in autism spectrum disorder.[6]       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4References[edit]^ Rivas, M. A.; Pirinen, M.; Conrad, D. F.; Lek, M.; Tsang, E. K.; Karczewski, K. J.; Maller, J. B.; Kukurba, K. R.; DeLuca, D. S. (2015-05-08). “Effect of predicted protein-truncating genetic variants on the human transcriptome”. Science. 348 (6235): 666\u2013669. Bibcode:2015Sci…348..666R. doi:10.1126\/science.1261877. ISSN\u00a00036-8075. PMC\u00a04537935. PMID\u00a025954003.^ a b Stenson, Peter D.; Mort, Matthew; Ball, Edward V.; Shaw, Katy; Phillips, Andrew D.; Cooper, David N. (January 2014). “The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine”. Human Genetics. 133 (1): 1\u20139. doi:10.1007\/s00439-013-1358-4. ISSN\u00a00340-6717. PMC\u00a03898141. PMID\u00a024077912.^ Easton, Douglas F.; Dunning, Alison M.; Pharoah, Paul DP; Ostrander, Elaine A.; Luben, Robert; Brown, Judith; Conroy, Don M.; Baynes, Caroline; Ahmed, Shahana (2017-11-01). “Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks”. Journal of Medical Genetics. Journal of Medical Genetics, The BMJ. 54 (11): 732\u2013741. doi:10.1136\/jmedgenet-2017-104588. PMC\u00a05740532. PMID\u00a028779002.^ pubmeddev; al, DeBoever C. , et (2018). “Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. – PubMed – NCBI”. Nature Communications. 9 (1): 1612. doi:10.1038\/s41467-018-03910-9. PMC\u00a05915386. PMID\u00a029691392.^ MacArthur, Daniel G.; Lappalainen, Tuuli; Montgomery, Stephen B.; McCarthy, Mark I.; Dermitzakis, Emmanouil T.; Sammeth, Michael; Ardlie, Kristin; Donnelly, Peter; Guigo, Roderic (2015-05-08). “Effect of predicted protein-truncating genetic variants on the human transcriptome”. Science. 348 (6235): 666\u2013669. Bibcode:2015Sci…348..666R. doi:10.1126\/science.1261877. PMC\u00a04537935. PMID\u00a025954003.^ De Rubeis, S He, X Goldberg, AP Poultney, CS Samocha, K Cicek, AE Kou, Y Liu, L Fromer, M Walker, S Singh, T Klei, L Kosmicki, J Shih-Chen, F Aleksic, B Biscaldi, M Bolton, PF Brownfeld, JM Cai, J Campbell, NG Carracedo, A Chahrour, MH Chiocchetti, AG Coon, H Crawford, EL Curran, SR Dawson, G Duketis, E Fernandez, BA Gallagher, L Geller, E Guter, SJ Hill, RS Ioni\u021b\u0103-Laza, J Jimenz Gonzalez, P Kilpinen, H Klauck, SM Kolevzon, A Lee, I Lei, I Lei, J Lehtim\u00e4ki, T Lin, C-F Ma’ayan, A Marshall, CR McInnes, AL Neale, B Owen, MJ Ozaki, N Parellada, M Parr, JR Purcell, S Puura, K Rajagopalan, D Rehnstr\u00f6m, K Reichenberg, A Sabo, A Sachse, M Sanders, SJ Schafer, C Schulte-R\u00fcther, M Skuse, D Stevens, C Szatmari, P Tammimies, K Valladares, O Voran, A Li-San, W Weiss, LA Willsey, AJ Yu, TW Yuen, RKC DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium, Cook, EH Freitag, CM Gill, M Hultman, CM Lehner, T Palotie, A Schellenberg, GD Sklar, P State, MW Sutcliffe, JS Walsh, CA Scherer, SW Zwick, ME Barett, JC Cutler, DJ Roeder, K Devlin, B Daly, MJ Buxbaum, JD (2014-11-13). Synaptic, transcriptional and chromatin genes disrupted in autism. OCLC\u00a01031073384.{{cite book}}:  CS1 maint: multiple names: authors list (link)       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4"},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki21\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/en\/wiki21\/protein-truncating-variants-wikipedia\/#breadcrumbitem","name":"Protein-truncating variants – Wikipedia"}}]}]