Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin.

@article{Fraternali2003EffectsOP,
  title={Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin.},
  author={Franca Fraternali and Luigi Cavallo and Giovanna Musco},
  journal={FEBS letters},
  year={2003},
  volume={544 1-3},
  pages={
          21-6
        }
}
A three-dimensional model has been calculated for the discoidin domain of retinoschisin (RS1), the protein involved in the X-linked juvenile retinoschisis. The model allows for a mapping of the pathological retinoschisis missense mutations and a rationale for the structural effects of an evolutionary conserved surface exposed triad (W122-R200-W163). Molecular dynamics simulations of the triad mutants models, together with ab initio energy calculations of the complexes corresponding to the triad… CONTINUE READING
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