Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome

@article{Subramanian2006EvolutionaryAO,
  title={Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome},
  author={Sankar Subramanian and S Sudalai Kumar},
  journal={BMC Genomics},
  year={2006},
  volume={7},
  pages={306 - 306}
}
Amino acid mutations in a large number of human proteins are known to be associated with heritable genetic disease. These disease-associated mutations (DAMs) are known to occur predominantly in positions essential to the structure and function of the proteins. Here, we examine how the relative perpetuation and conservation of amino acid positions modulate the genome-wide patterns of 8,627 human disease-associated mutations (DAMs) reported in 541 genes. We compare these patterns with 5,308 non… CONTINUE READING