| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.880 | GeneticVariation | BEFREE | We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Mecp2[T158M] knock-in mice, in addition to Mecp2[R306C] mutant mice. | 26647311 | 2016 |
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0.880 | GeneticVariation | BEFREE | The results are in agreement with previous experimental studies and further provide atomic level understanding of the molecular origin of RTT associated with R133C variant. | 26064184 | 2015 |
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0.880 | GeneticVariation | BEFREE | Clinicians need to be alerted to the variable presentation of Rett syndrome including the milder phenotypes of cases with the p.R133C or p.R294X mutation. | 20815036 | 2010 |
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0.880 | GeneticVariation | BEFREE | RTT females with the frequently recurrent R133C and R306C missense mutations and those with intragenic deletions in the C-terminus of MECP2 deserve more attention in larger studies as their development is different and milder in the long term. | 19133691 | 2009 |
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0.880 | GeneticVariation | BEFREE | Two missense mutations, R133C (33.3%) and R306C (23.3%), and a nonsense mutation, R294X (13.3%), were common in 30 patients with atypical RTT, including the preserved speech variant (PSV). | 15737703 | 2005 |
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0.880 | GeneticVariation | BEFREE | A sister with R133C displayed classic RTT. | 16122633 | 2005 |
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0.880 | GeneticVariation | BEFREE | In the cohort of Angelman-negative patients (N=63), two missense mutations (p.R133C in a female patient and a mosaic p.T158M in a male patient) were found, which have been reported many times in patients with classical RTT syndrome. | 14560307 | 2004 |
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0.880 | GeneticVariation | BEFREE | Three of these mutations (R106W, R133C, and F155S) have their binding affinities for methylated DNA reduced more than 100-fold; this is consistent with the hypothesis that impaired selectivity for methylated DNA of mutant MeCP2 contributes to Rett syndrome. | 10852707 | 2000 |