Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.010 | GeneticVariation | BEFREE | To test this hypothesis in vivo, we employed neuronally targeted expression of three human FMR1 transgenes, including wild-type (hFMR1), dephosphomimetic (S500A-hFMR1) and phosphomimetic (S500D-hFMR1), in the Drosophila FXS disease model to investigate phosphorylation requirements. | 22080836 | 2012 |
||||
|
0.860 | GeneticVariation | BEFREE | We conclude that mental retardation associated with the I304N mutation, and likely the Fragile-X syndrome more generally, may relate to a crucial role for RNAs harboring the kissing complex motif as targets for FMRP translational regulation. | 15805463 | 2005 |
||||
|
0.860 | GeneticVariation | BEFREE | However, a single missense mutation (I304N) in the second KH domain of FMRP gives rise to a particularly severe case of Fragile X syndrome. | 15670167 | 2005 |
||||
|
0.860 | GeneticVariation | BEFREE | FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. | 9659908 | 1997 |
||||
|
0.860 | GeneticVariation | BEFREE | We propose a contribution of Tdrd3 to FMRP-mediated translational repression and suggest that the loss of the FMRP-Tdrd3 interaction caused by the I304N mutation might contribute to the pathogenesis of Fragile X syndrome. | 18664458 | 2008 |
||||
|
0.860 | GeneticVariation | BEFREE | In over two decades since the discovery of FMR1, only a single missense mutation (p.(Ile304Asn)) has been reported as causing fragile X syndrome. | 24448548 | 2014 |
||||
|
0.860 | GeneticVariation | BEFREE | To address these issues, we have generated a new Fragile X Syndrome mouse model in which the endogenous Fmr1 gene harbors the I304N mutation. | 20011099 | 2009 |