title: Changes in predicted protein disorder tendency may contribute to disease risk.
abstract: BACKGROUND
  Recent studies suggest that many proteins or regions of proteins lack 3D structure. Defined as intrinsically disordered proteins, these proteins/peptides are functionally important. Recent advances in next generation sequencing technologies enable genome-wide identification of novel nucleotide variations in a specific population or cohort.
  
  
  RESULTS
  Using the exonic single nucleotide variations (SNVs) identified in the 1,000 Genomes Project and distributed by the Genetic Analysis Workshop 17, we systematically analysed the genetic and predicted disorder potential features of the non-synonymous variations. The result of experiments suggests that a significant change in the tendency of a protein region to be structured or disordered caused by SNVs may lead to malfunction of such a protein and contribute to disease risk.
  
  
  CONCLUSIONS
  After validation with functional SNVs on the traits distributed by GAW17, we conclude that it is valuable to consider structure/disorder tendencies while prioritizing and predicting mechanistic effects arising from novel genetic variations.
authors.affiliation: Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, USA.
authors.forename: Yang
authors.initials: Y
authors.lastname: Hu
authors.forename: Yunlong
authors.initials: Y
authors.lastname: Liu
authors.forename: Jeesun
authors.initials: J
authors.lastname: Jung
authors.forename: A Keith
authors.initials: AK
authors.lastname: Dunker
authors.forename: Yadong
authors.initials: Y
authors.lastname: Wang
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D003062:Codon; D003245:Consensus Statements as Topic; D030541:Databases, Genetic; D004194:Disease / Q000209:etiology / Q000235:genetics*; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D017434:Protein Structure, Tertiary; D011506:Proteins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism; D012307:Risk Factors
chemical_list: D003062:Codon; D011506:Proteins