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Structural impact of SNPs

Martin, Andrew C. R.; Baresic, Anja; (2013) Structural impact of SNPs. In: Roberts, GK, (ed.) Encyclopedia of Biophysics. Springer Nature Green open access

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Abstract

The simplest form of mutation is a single DNA base change, frequently referred to as a “single nucleotide polymorphism” (SNP). Strictly, this term should only be applied to single base changes that are observed in at least 1% of a “normal” population. However, it is frequently used to refer to any single base mutation and is used in that context here. Many SNPs occur in noncoding regions of DNA, where they may affect transcription, mRNA splicing, or mRNA stability. When a single base change occurs in an exon, it will fall into one of three classes: (1) a “synonymous” mutation which does not change the amino acid sequence of the resultant protein (although this may still affect expression, splicing, or mRNA stability), (2) a “nonsense” mutation resulting in premature termination of the protein sequence, or (3) a “non-synonymous” (or “missense”) mutation (an nsSNP) resulting in a single amino acid change. At the protein level, an nsSNP results in a “single amino acid...

Type: Book chapter
Title: Structural impact of SNPs
ISBN: 364216711X
ISBN-13: 978-3-642-16711-9
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/978-3-642-16712-6
Publisher version: https://doi.org/10.1007/978-3-642-16712-6
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Structural and Molecular Biology
URI: https://discovery.ucl.ac.uk/id/eprint/10033906
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