Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434622
rs121434622
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

dbSNP: rs121434622
rs121434622
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

dbSNP: rs121434622
rs121434622
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

dbSNP: rs121434622
rs121434622
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

dbSNP: rs121434622
rs121434622
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

dbSNP: rs121434622
rs121434622
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

dbSNP: rs182830086
rs182830086
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