Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE To facilitate the study of cellular mechanisms in human cells, we established several human stem cell lines: human embryonic stem cell (hESC) line carrying the common T158M mutation (<i>MECP2<sup>T158M/T158M</sup></i> ), hESC line expressing no MECP2 (<i>MECP2-KO</i>), congenic pair of wild-type and mutant RTT patient-specific induced pluripotent stem cell (iPSC) line carrying the V247fs mutation (V247fs-WT and V247fs-MT), and iPSC line in which the V247fs mutation was corrected by CRISPR/Cas9-based genome editing (V247fs-MT-correction). 28270572

2017

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE Together, these findings demonstrate that increasing MeCP2 T158M protein expression is sufficient to mitigate RTT-like phenotypes and support the targeting of MeCP2 T158M expression or stability as an alternative therapeutic approach. 28394263

2017

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE Lower doses of this vector significantly extended the survival of mice lacking MeCP2 or expressing a mutant T158M allele but had no impact on RTT-like neurological phenotypes. 28497075

2017

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE Combining this approach with an allelic series of knock-in mice carrying frequent RTT-associated mutations (encoding T158M and R106W) enabled the selective profiling of RTT-associated nuclear transcriptomes in excitatory and inhibitory cortical neurons. 28920956

2017

dbSNP: rs28934906
rs28934906
0.900 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

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE In classic RTT, poor growth was associated with worse development, higher disease severity, and certain MECP2 mutations (pre-C-terminal truncation, large deletion, T158M, R168X, R255X, and R270X). 23035069

2012

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE One of the most common MeCP2 mutations associated with RTT occurs at threonine 158, converting it to methionine (T158M) or alanine (T158A). 22119903

2011

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE RTT females with the T158M missense mutation are often atypical with mainly behavioral characteristics in infancy and childhood but become classic RTT in adolescence after a slower, protracted course. 19133691

2009

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE Consistent with reduced neuronal growth and complexity in Rett syndrome (RTT) brains, overexpression of human MECP2 carrying missense mutations common in RTT individuals (R106W or T158M) reduced dendritic and axonal length. 19217433

2009

dbSNP: rs28934906
rs28934906
0.900 GeneticVariation BEFREE A missense mutation, T158M was the most common mutation of MECP2, identified in 22 (19.1%) patients, followed by four nonsense mutations, R168X (14.8%), R270X (13.0%), R255X (9.6%), and R294X (6.1%) in 115 patients with classical RTT. 15737703

2005

dbSNP: rs28934906
rs28934906
0.900 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

dbSNP: rs28934904
rs28934904
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

dbSNP: rs28934904
rs28934904
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

dbSNP: rs28934904
rs28934904
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

dbSNP: rs28934904
rs28934904
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

dbSNP: rs28934904
rs28934904
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

dbSNP: rs28934904
rs28934904
0.880 GeneticVariation BEFREE A sister with R133C displayed classic RTT. 16122633

2005

dbSNP: rs28934904
rs28934904
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

dbSNP: rs28934904
rs28934904
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

dbSNP: rs28935468
rs28935468
0.870 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

dbSNP: rs28935468
rs28935468
0.870 GeneticVariation BEFREE To model RTT in vitro, we generated induced pluripotent stem cells (iPSCs) from fibroblasts of two RTT patients with different mutations (MECP2 (R306C) and MECP2 (1155Δ32)) in their MECP2 gene. 27379379

2016

dbSNP: rs28935468
rs28935468
0.870 GeneticVariation BEFREE In knock-in mice bearing the common human RTT missense mutation R306C, neuronal activity fails to induce MeCP2 T308 phosphorylation, suggesting that the loss of T308 phosphorylation might contribute to RTT. 23770587

2013

dbSNP: rs28935468
rs28935468
0.870 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

dbSNP: rs28935468
rs28935468
0.870 GeneticVariation BEFREE Although more than 200 different MECP2 mutations have been identified throughout the gene, 7 of those (p.R133C, p.T158M, p.R168X, p.R255X, p.R270X, p.R294X, and p.R306C) account for up to two-thirds of pathogenic mutations in RTT patients. 19309269

2009

dbSNP: rs28935468
rs28935468
0.870 GeneticVariation BEFREE Three hotspot mutations (R106W, R255X, and R306C) were found in 3 girls with classic Rett syndrome. 18174559

2007