title: Huge proteins in the human proteome and their participation in hereditary diseases.
abstract: Protein lengths vary considerably from a few to thousands of amino acids and length variations are documented to have multiple effects. A computational approach to investigate the functional impact of protein length variation in genetic disorders is presented. The genes for huge proteins are found to have more introns. Our analysis also shows greater involvement of huge proteins in hereditary diseases.
authors.affiliation: Nanyang Centre for Supercomputing and Visualization, MAE, Nanyang Technological University, Singapore. mmeena@ntu.edu.sg
authors.forename: Meena Kishore
authors.initials: MK
authors.lastname: Sakharkar
authors.forename: Pandjassarame
authors.initials: P
authors.lastname: Kangueane
authors.forename: Kishore Ramaji
authors.initials: KR
authors.lastname: Sakharkar
authors.forename: Zhaowei
authors.initials: Z
authors.lastname: Zhong
mesh_terms: D005091:Exons; D030342:Genetic Diseases, Inborn / Q000209:etiology / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D007438:Introns; D008954:Models, Biological; D011506:Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D020543:Proteome
chemical_list: D011506:Proteins; D020543:Proteome