Distribution and effects of nonsense polymorphisms in human genes.

ABSTRACT:

Background

A great amount of data has been accumulated on genetic variations in the human genome, but we still do not know much about how the genetic variations affect gene function. In particular, little is known about the distribution of nonsense polymorphisms in human genes despite their drastic effects on gene products.

Methodology/principal findings

To detect polymorphisms affecting gene function, we analyzed all publicly available polymorphisms in a database for single nucleotide polymorphisms (dbSNP build 125) located in the exons of 36,712 known and predicted protein-coding genes that were defined in an annotation project of all human genes and transcripts (H-InvDB ver3.8). We found a total of 252,555 single nucleotide polymorphisms (SNPs) and 8,479 insertion and del

SUBMITTER: Yamaguchi-Kabata Y 

PROVIDER: S-EPMC2561068 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature