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Types and effects of protein variations.

Vihinen, Mauno LU (2015) In Human Genetics 134(4). p.405-421
Abstract
Variations in proteins have very large number of diverse effects affecting sequence, structure, stability, interactions, activity, abundance and other properties. Although protein-coding exons cover just over 1 % of the human genome they harbor an disproportionately large portion of disease-causing variants. Variation ontology (VariO) has been developed for annotation and description of variation effects, mechanisms and consequences. A holistic view for variations in proteins is made available along with examples of real cases. Protein variants can be of genetic origin or emerge at protein level. Systematic names are provided for all variation types, a more detailed description can be made by explaining changes to protein function,... (More)
Variations in proteins have very large number of diverse effects affecting sequence, structure, stability, interactions, activity, abundance and other properties. Although protein-coding exons cover just over 1 % of the human genome they harbor an disproportionately large portion of disease-causing variants. Variation ontology (VariO) has been developed for annotation and description of variation effects, mechanisms and consequences. A holistic view for variations in proteins is made available along with examples of real cases. Protein variants can be of genetic origin or emerge at protein level. Systematic names are provided for all variation types, a more detailed description can be made by explaining changes to protein function, structure and properties. Examples are provided for the effects and mechanisms, usually in relation to human diseases. In addition, the examples are selected so that protein 3D structural changes, when relevant, are included and visualized. Here, systematics is described for protein variants based on VariO. It will benefit the unequivocal description of variations and their effects and further reuse and integration of data from different sources. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Human Genetics
volume
134
issue
4
pages
405 - 421
publisher
Springer
external identifiers
  • pmid:25616435
  • wos:000351136600004
  • scopus:84925520236
ISSN
1432-1203
DOI
10.1007/s00439-015-1529-6
language
English
LU publication?
yes
id
646fe1e2-9ad3-489c-9743-c24df24229bb (old id 5039877)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/25616435?dopt=Abstract
date added to LUP
2015-02-03 21:30:14
date last changed
2017-08-27 03:01:10
@article{646fe1e2-9ad3-489c-9743-c24df24229bb,
  abstract     = {Variations in proteins have very large number of diverse effects affecting sequence, structure, stability, interactions, activity, abundance and other properties. Although protein-coding exons cover just over 1 % of the human genome they harbor an disproportionately large portion of disease-causing variants. Variation ontology (VariO) has been developed for annotation and description of variation effects, mechanisms and consequences. A holistic view for variations in proteins is made available along with examples of real cases. Protein variants can be of genetic origin or emerge at protein level. Systematic names are provided for all variation types, a more detailed description can be made by explaining changes to protein function, structure and properties. Examples are provided for the effects and mechanisms, usually in relation to human diseases. In addition, the examples are selected so that protein 3D structural changes, when relevant, are included and visualized. Here, systematics is described for protein variants based on VariO. It will benefit the unequivocal description of variations and their effects and further reuse and integration of data from different sources.},
  author       = {Vihinen, Mauno},
  issn         = {1432-1203},
  language     = {eng},
  number       = {4},
  pages        = {405--421},
  publisher    = {Springer},
  series       = {Human Genetics},
  title        = {Types and effects of protein variations.},
  url          = {http://dx.doi.org/10.1007/s00439-015-1529-6},
  volume       = {134},
  year         = {2015},
}