Article
Prediction of protein-destabilizing polymorphisms by manual curation with protein structure.
PloS one - 1 Jan 2012
Gough Craig Alan, Homma Keiichi, Yamaguchi-Kabata Yumi, Shimada Makoto K, Chakraborty Ranajit, Fujii Yasuyuki, Iwama Hisakazu, Minoshima Shinsei, Sakamoto Shigetaka, Sato Yoshiharu, Suzuki Yoshiyuki, Tada-Umezaki Masahito, Nishikawa Ken, Imanishi Tadashi, Gojobori Takashi
Abstract excerpt
The relationship between sequence polymorphisms and human disease has been studied mostly in terms of effects of single nucleotide polymorphisms (SNPs) leading to single amino acid substitutions that change protein structure and function. However, less attention has been paid to more drastic sequence polymorphisms which cause premature termination of a protein's sequence or large changes, insertions, or deletions...
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