Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.

@article{Turner2015ProteinsLT,
  title={Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.},
  author={Tychele N Turner and Christopher Douville and Dewey Kim and Peter D. Stenson and David N. Cooper and Aravinda Chakravarti and Rachel Karchin},
  journal={Human molecular genetics},
  year={2015},
  volume={24 21},
  pages={5995-6002}
}
The role of rare missense variants in disease causation remains difficult to interpret. We explore whether the clustering pattern of rare missense variants (MAF < 0.01) in a protein is associated with mode of inheritance. Mutations in genes associated with autosomal dominant (AD) conditions are known to result in either loss or gain of function, whereas mutations in genes associated with autosomal recessive (AR) conditions invariably result in loss-of-function. Loss-of-function mutations tend… CONTINUE READING