Kinase mutations in human disease: interpreting genotype–phenotype relationships

  title={Kinase mutations in human disease: interpreting genotype–phenotype relationships},
  author={Piya Lahiry and Ali Torkamani and Nicholas J. Schork and Robert A Hegele},
  journal={Nature Reviews Genetics},
Protein kinases are one of the largest families of evolutionarily related proteins and comprise one of the most abundant gene families in humans. Here we survey kinase gene mutations from the perspective of human disease phenotypes and further analyse the structural features of mutant kinases, including mutational hotspots. Our evaluation of the genotype–phenotype relationship across 915 human kinase mutations — that underlie 67 single-gene diseases, mainly inherited developmental and metabolic… CONTINUE READING

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