Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1430119276
rs1430119276
TSC2
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		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