rs45517423
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We used these assays to compare the effects of 9 different TSC2 variants (S132C, F143L, A196T, C244R, Y598H, I820del, T993M, L1511H and R1772C) identified in individuals with symptoms of TSC from 4 different families.
|
18302728 |
2008 |
rs1060500931
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Family 2 had two children with tuberous sclerosis (TSC2 C1327T) and two healthy children.
|
22884613 |
2012 |
rs1114167462
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Family 2 had two children with tuberous sclerosis (TSC2 C1327T) and two healthy children.
|
22884613 |
2012 |
rs1430119276
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, phosphorylation defective TSC2 mutants (S932A and S939A single mutants and a S932A/S939A double mutant) failed to upregulate mTORC1 activity in the presence of translation inhibitors, suggesting that activation of mTORC1 by translation inhibitors is mediated by PKC-δ phosphorylation of TSC2 at S932/S939, which inactivates TSC.
|
30684133 |
2019 |
rs1459518095
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.
|
21332470 |
2012 |
rs28934872
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Combined with her clinical presentation, the patient was diagnosed with TSC after molecular analysis revealed she had inherited the TSC2 c.1832G>A (p.R611Q) mutation from her mother.
|
31083211 |
2019 |
rs376285784
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One TSC2 mutation, R505Q, was identified in a patient with intellectual disability, seizures and autistic spectrum disorder but who did not fulfil the diagnostic criteria for TSC.
|
21407264 |
2011 |
rs397514914
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a pathogenic TSC2 variant, c.1864C>T, p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC.
|
28211972 |
2017 |
rs397514916
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.
|
21332470 |
2012 |
rs397515225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To the best of our knowledge, this is the first report of the c.3599G>C (p.R1200P) variant in exon 29 of the TSC2 gene related to a severe clinical course and multiple kidney transplants in a patient with TSC.
|
29308833 |
2017 |
rs45438205
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional analysis of the TSC2 R1200W variant, and four other TSC2 missense variants associated with a mild TSC phenotype, confirmed that the changes disrupted the TSC1-TSC2 function.
|
21332470 |
2012 |
rs45469298
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a pathogenic TSC2 variant, c.1864C>T, p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC.
|
28211972 |
2017 |
rs45487497
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Subtle, non-truncating mutations identified in patients with tuberous sclerosis and located within the putative binding regions of hamartin (N198_F199delinsI;593-595delACT) or tuberin (G294E and I365del), abolished or dramatically reduced interaction of the proteins as assessed by yeast two-hybrid assays and by co-immunoprecipitation of the full-length proteins from Cos7 cells.
|
11741833 |
2001 |
rs45509500
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In total, 4 missense mutations were found in 3 patients with TC/AC, including mutations in exon 48 of mTOR (c.6667C>T), exon 21 of tuberous sclerosis complex (TSC) 1 (c.2765G>A), and exons 12 (c.1265C>T) and 19 (c.2148C>T) of TSC2.
|
28789352 |
2017 |
rs45514100
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A heterozygous nonsense TSC1 mutation g.132902703C>T (c.2293C>T, p.Gln765Ter) was identified in a patient with TSC and KC.
|
29261847 |
2017 |
rs45517234
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A heterozygous nonsense TSC1 mutation g.132902703C>T (c.2293C>T, p.Gln765Ter) was identified in a patient with TSC and KC.
|
29261847 |
2017 |
rs45517259
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
|
17120248 |
2006 |
rs45517278
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, phosphorylation defective TSC2 mutants (S932A and S939A single mutants and a S932A/S939A double mutant) failed to upregulate mTORC1 activity in the presence of translation inhibitors, suggesting that activation of mTORC1 by translation inhibitors is mediated by PKC-δ phosphorylation of TSC2 at S932/S939, which inactivates TSC.
|
30684133 |
2019 |
rs45517305
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online.
|
10215407 |
1998 |
rs752603642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A heterozygous nonsense TSC1 mutation g.132902703C>T (c.2293C>T, p.Gln765Ter) was identified in a patient with TSC and KC.
|
29261847 |
2017 |
rs754504918
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Combined with her clinical presentation, the patient was diagnosed with TSC after molecular analysis revealed she had inherited the TSC2 c.1832G>A (p.R611Q) mutation from her mother.
|
31083211 |
2019 |
rs764288120
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In total, 4 missense mutations were found in 3 patients with TC/AC, including mutations in exon 48 of mTOR (c.6667C>T), exon 21 of tuberous sclerosis complex (TSC) 1 (c.2765G>A), and exons 12 (c.1265C>T) and 19 (c.2148C>T) of TSC2.
|
28789352 |
2017 |
rs993614997
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.
|
21332470 |
2012 |