Article
A survey of proteins encoded by non-synonymous single nucleotide polymorphisms reveals a significant fraction with altered stability and activity.
The Biochemical journal - 23 Oct 2009
Allali-Hassani Abdellah, Wasney Gregory A, Chau Irene, Hong Bum Soo, Senisterra Guillermo, Loppnau Peter, Shi Zhen, Moult John, Edwards Aled M, Arrowsmith Cheryl H, Park Hee Won, Schapira Matthieu, Vedadi Masoud
Abstract excerpt
On average, each human gene has approximately four SNPs (single nucleotide polymorphisms) in the coding region, half of which are nsSNPs (non-synonymous SNPs) or missense SNPs. Current attention is focused on those that are known to perturb function and are strongly linked to disease. However, the vast majority of SNPs have not been investigated for the possibility of causing disease. We set out to assess the...
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