missense mutation | definition

point mutation that results in a different amino acid being incorporated into the resulting polypeptide


Source:

Parker, N., Schneegurt, M., Thi Tu, A.-H., Forster, B. M., & Lister, P. (n.d.). Microbiology. Houston, Texas: OpenStax. Access for free at: https://openstax.org/details/books/microbiology


Advertisements

Advertisements

Keywords: definition, vocabulary, meaning, what is, define, explain, thesaurus, dictionary


Research Article: Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism

Date Published: June 29, 2012 Publisher: Public Library of Science Author(s): Agata Podhajska, Alessandra Musso, Alzbeta Trancikova, Klodjan Stafa, Roger Moser, Sarah Sonnay, Liliane Glauser, Darren J. Moore, Charleen T. Chu. http://doi.org/10.1371/journal.pone.0039942 Abstract: Mutations in the ATP13A2 gene (PARK9) cause autosomal recessive, juvenile-onset Kufor-Rakeb syndrome (KRS), a neurodegenerative disease characterized by parkinsonism. KRS mutations produce truncated … Continue reading

Research Article: Papillorenal Syndrome-Causing Missense Mutations in PAX2/Pax2 Result in Hypomorphic Alleles in Mouse and Human

Date Published: March 5, 2010 Publisher: Public Library of Science Author(s): Ramakrishna P. Alur, Camasamudram Vijayasarathy, Jacob D. Brown, Mohit Mehtani, Ighovie F. Onojafe, Yuri V. Sergeev, Elangovan Boobalan, MaryPat Jones, Ke Tang, Haiquan Liu, Chun-hong Xia, Xiaohua Gong, Brian P. Brooks, Tom Glaser Abstract: Papillorenal syndrome (PRS, also known as renal-coloboma syndrome) is an … Continue reading

Research Article: Different outcome of sarcoglycan missense mutation between human and mouse

Date Published: January 23, 2018 Publisher: Public Library of Science Author(s): Sara F. Henriques, Cécile Patissier, Nathalie Bourg, Chiara Fecchio, Doriana Sandona, Justine Marsolier, Isabelle Richard, James M. Ervasti. http://doi.org/10.1371/journal.pone.0191274 Abstract: Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycan (α, β, δ, and γ-sarcoglycans). … Continue reading

Research Article: Epidermal Growth Factor Receptor Activation in Glioblastoma through Novel Missense Mutations in the Extracellular Domain

Date Published: December 19, 2006 Publisher: Public Library of Science Author(s): Jeffrey C Lee, Igor Vivanco, Rameen Beroukhim, Julie H. Y Huang, Whei L Feng, Ralph M DeBiasi, Koji Yoshimoto, Jennifer C King, Phioanh Nghiemphu, Yuki Yuza, Qing Xu, Heidi Greulich, Roman K Thomas, J. Guillermo Paez, Timothy C Peck, David J Linhart, Karen A … Continue reading

Research Article: A Novel Missense Mutation in the Connexin30 Causes Nonsyndromic Hearing Loss

Date Published: June 24, 2011 Publisher: Public Library of Science Author(s): Wen-Hung Wang, Yu-Fan Liu, Ching-Chyuan Su, Mao-Chang Su, Shuan-Yow Li, Jiann-Jou Yang, Bob Lightowlers. http://doi.org/10.1371/journal.pone.0021473 Abstract: Dysfunctional gap junctions caused by GJB2 (CX26) and GJB6 (CX30) mutations are implicated in nearly half of nonsyndromic hearing loss cases. A recent study identified a heterozygous mutation, c.119C>T … Continue reading

Research Article: A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia

Date Published: September 25, 2015 Publisher: Public Library of Science Author(s): Haochen Liu, Tingting Ding, Yuan Zhan, Hailan Feng, Leonard Eisenberg. http://doi.org/10.1371/journal.pone.0138221 Abstract: Oligodontia is defined as the congenital absence of six or more permanent teeth, excluding the third molars. Oligodontia may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. Numerous gene mutations … Continue reading

Research Article: A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia

Date Published: September 25, 2015 Publisher: Public Library of Science Author(s): Haochen Liu, Tingting Ding, Yuan Zhan, Hailan Feng, Leonard Eisenberg. http://doi.org/10.1371/journal.pone.0138221 Abstract: Oligodontia is defined as the congenital absence of six or more permanent teeth, excluding the third molars. Oligodontia may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. Numerous gene mutations … Continue reading

Research Article: CanDrA: Cancer-Specific Driver Missense Mutation Annotation with Optimized Features

Date Published: October 30, 2013 Publisher: Public Library of Science Author(s): Yong Mao, Han Chen, Han Liang, Funda Meric-Bernstam, Gordon B. Mills, Ken Chen, Tatjana Adamovic. http://doi.org/10.1371/journal.pone.0077945 Abstract: Driver mutations are somatic mutations that provide growth advantage to tumor cells, while passenger mutations are those not functionally related to oncogenesis. Distinguishing drivers from passengers is … Continue reading

Research Article: E-Cadherin Destabilization Accounts for the Pathogenicity of Missense Mutations in Hereditary Diffuse Gastric Cancer

Date Published: March 21, 2012 Publisher: Public Library of Science Author(s): Joana Simões-Correia, Joana Figueiredo, Rui Lopes, François Stricher, Carla Oliveira, Luis Serrano, Raquel Seruca, Masaru Katoh. http://doi.org/10.1371/journal.pone.0033783 Abstract: E-cadherin is critical for the maintenance of tissue architecture due to its role in cell-cell adhesion. E-cadherin mutations are the genetic cause of Hereditary Diffuse Gastric Cancer … Continue reading

Research Article: Missense Mutations Allow a Sequence-Blind Mutant of SpoIIIE to Successfully Translocate Chromosomes during Sporulation

Date Published: February 5, 2016 Publisher: Public Library of Science Author(s): Baundauna Bose, Sydney E. Reed, Marina Besprozvannaya, Briana M. Burton, Raymond Schuch. http://doi.org/10.1371/journal.pone.0148365 Abstract: SpoIIIE directionally pumps DNA across membranes during Bacillus subtilis sporulation and vegetative growth. The sequence-reading domain (γ domain) is required for directional DNA transport, and its deletion severely impairs sporulation. … Continue reading


Advertisements

Advertisements