Krueger, S.

variant tsc 2 variants tsc 1 wild-type tsc 1–tsc signal wild-type tsc 1 variants tsc 2 1–tsc change mutation t 389/s ratio assessment nellist tsc 2 lovd van den ouweland analysis sclerosis tuberou ratio 389/ tuberous sclerosis wild-type tsc 1 protein substitution t 389/s ratios nellist m assay acid substitutions region table tsc 2 gene control halley study tsc 1–tsc wild-type control genet individual ouweland transfection department figure function effect tsc 2 signal t 389-phosphorylated presence 6k signals van slegtenhorst prediction nucleotide n-terminal genetic activity 6k signal kwiatkowski dj goedbloed m missense tsc 1 stability tsc 2 variant tsc 2 genes kwiatkowski splice-site expression phosphorylation slegtenhorst nucleotide change halley djj chromosome result acid changes nucleotide changes transfection experiments n-terminal half codon protein function splice-site analysis mozaffari n-terminal region