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 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutation screening in Rett syndrome patients.
|
10745042 |
2000 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Molecular diagnostic dilemmas in Rett syndrome.
|
22277191 |
2012 |
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 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
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 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
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 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
|
12567420 |
2003 |
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
|
10991689 |
2000 |
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.
|
11376998 |
2001 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
|
16473305 |
2006 |
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 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Functional consequences of Rett syndrome mutations on human MeCP2.
|
11058114 |
2000 |
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
|
17089071 |
2007 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Rett syndrome: North American database.
|
18174548 |
2007 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
|
11055898 |
2000 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.
|
11738883 |
2001 |
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
|
11269512 |
2001 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutational analysis of the MECP2 gene in Tunisian patients with Rett syndrome: a novel double mutation.
|
20631224 |
2010 |
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
|
17881312 |
2008 |
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 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Here, we have shown that frequent RTT-causing missense mutations (R106W, R133C, F155S, T158M) located in the methylated DNA-binding domain (MBD) of MeCP2 have profound and diverse effects on its structure, stability, and DNA-binding properties.
|
18499664 |
2008 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
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 |
rs28934906
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
|
11055898 |
2000 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Epilepsy and the natural history of Rett syndrome.
|
20231667 |
2010 |