Global human frequencies of predicted nuclear pathogenic variants and the role played by protein hydrophobicity in pathogenicity potential

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Pereira, Luísa; Soares, Pedro; Triska, Petr; Rito, Teresa; van der Waerden, Agnes; Li, Biao; Radivojac, Predrag; Samuels, David C.;
  • Publisher: Nature Publishing Group
  • Journal: volume 4eissn: 2045-2322
  • Publisher copyright policies & self-archiving
  • Related identifiers: pmc: PMC4239565, doi: 10.1038/srep07155
  • Subject: Mitochondrial Proteins/immunology | DNA/genetics | African Continental Ancestry Group/genetics | Asian Continental Ancestry Group/genetics | Cell Nucleus/genetics | Genetic Variation | Article | DNA/metabolism | Databases Genetic | DNA Mitochondrial/metabolism | Polymorphism Genetic | Mitochondrial Proteins/metabolism | Mitochondrial Proteins/chemistry | European Continental Ancestry Group/genetics | DNA Mitochondrial/genetics | Humans | Hydrophobic and Hydrophilic Interactions

Mitochondrial proteins are coded by nuclear (nDNA) and mitochondrial (mtDNA) genes, implying a complex cross-talk between the two genomes. Here we investigated the diversity displayed in 104 nuclear-coded mitochondrial proteins from 1,092 individuals from the 1000 Genom... View more
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