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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/5039877
- author
- Vihinen, Mauno
LU
- organization
- publishing date
- 2015
- 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
- pmid:25616435
- 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
- 2016-04-01 09:50:06
- date last changed
- 2022-02-02 03:20:58
@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 = {{https://lup.lub.lu.se/search/files/1301772/8521430.pdf}},
doi = {{10.1007/s00439-015-1529-6}},
volume = {{134}},
year = {{2015}},
}