Accounting for human polymorphisms predicted to affect protein function.

@article{Ng2002AccountingFH,
  title={Accounting for human polymorphisms predicted to affect protein function.},
  author={Pauline C. Ng and Steven Henikoff},
  journal={Genome research},
  year={2002},
  volume={12 3},
  pages={436-46}
}
A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide polymorphism (nsSNP) in a gene affects its protein product and, consequently, impacts the carrier's health. We used the SIFT (Sorting Intolerant From Tolerant) program to predict that 25% of 3084 nsSNPs from dbSNP, a public SNP database, would affect protein function. Some of the nsSNPs predicted to affect function were variants known to be associated with disease. Others were artifacts of SNP… CONTINUE READING
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