Oh et al. (2016) found that DDX3X bearing a medulloblastoma-associated R534H mutation that reduces its catalytic activity had a similar overall binding profile to wild-type DDX3X. Additionally, Valentin-Vega et al. (2016) showed that different medulloblastoma-associated DDX3X mutants (M370R, G302V, G325E) retained their RNA binding ability in vitro. Overall, this suggests that these mutations do not drastically change the binding of DDX3X to its RNA substrates, although they impact downstream consequences of binding (see Section 4.2 and Section 4.3.1). The gene discussed is DDX3X; the disease is medulloblastoma.