Pervasive mislocalization of pathogenic coding variants underlying human disordersPathogenic missense variation can affect protein function in many ways, but the role of protein mislocalization has not been systematically assessed. By characterizing the localization of 3,400 missense variants of over 1,000 genes, we discovered that mislocalization is an unexpectedly common molecular phenotype of coding variation.Pathogenic missense variation can affect protein function in many ways, but the role of protein mislocalization has not been systematically assessed. By characterizing the localization of 3,400 missense variants of over 1,000 genes, we discovered that mislocalization is an unexpectedly common molecular phenotype of coding variation.Jessica Lacoste, Marzieh Haghighi, Shahan Haider, Chloe Reno, Zhen-Yuan Lin, Dmitri Segal, Wesley Wei Qian, Xueting Xiong, Tanisha Teelucksingh, Esteban Miglietta, Hamdah Shafqat-Abbasi, Pearl V. Ryder, Rebecca Senft, Beth A. Cimini, Ryan R. Murray, Chantal Nyirakanani, Tong Hao, Gregory G. McClain, Frederick P. Roth, Michael A. Calderwood, David E. Hill, Marc Vidal, S. Stephen Yi, Nidhi Sahni, Jian Peng, Anne-Claude Gingras, Shantanu Singh, Anne E. Carpenter, Mikko Taipalehttps://www.cell.com/cell/fulltext/S0092-8674(24)01021-3?rss=yeshttp://www.cell.com/cell/inpress.rssCellCell RSS feed.Wireless News CampaignOctober 1, 2024

Powered by WPeMatico