Genetic disease mutations Collection

These structures show human proteins where missense mutations are associated with disease. You can view these structures, by downloading the collection and open it in the Molecule World iPad app.

Structures in the collection

Type Description Download structure
An MW Collection

Download and open in the Molecule World iPad app to compare the normal and mutant structures.

Binary Data Genetic_disease.mwc

Karyopherin-beta2 bound to a portion of the normal FUS protein with proline 525.

Binary Data 5yvi.pdb.gz

Karyopherin-Beta2 bound to a portion of the FUS protein, with a hypothetical model of a Pro525leu mutation. Note - this exact structure wouldn't exist because of steric hindrance.

Binary Data 5yvi_P525L_mut.pdb.gz

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