Proteins and domains vary in their tolerance of non-synonymous single nucleotide polymorphisms (nsSNPs).

@article{Yates2013ProteinsAD,
  title={Proteins and domains vary in their tolerance of non-synonymous single nucleotide polymorphisms (nsSNPs).},
  author={Christopher M. Yates and Michael J. E. Sternberg},
  journal={Journal of molecular biology},
  year={2013},
  volume={425 8},
  pages={1274-86}
}
The widespread application of whole-genome sequencing is identifying numerous non-synonymous single nucleotide polymorphisms (nsSNPs), many of which are associated with disease. We analyzed nsSNPs from Humsavar and the 1000 Genomes Project to investigate why some proteins and domains are more tolerant of mutations than others. We identified 311 proteins and 112 Pfam families, corresponding to 2910 domains, as diseasesusceptible and 32 proteins and 67 Pfam families (10,783 domains) as… CONTINUE READING
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