Table 2

Missense and silent changes in the TSC1 gene

ExonCodent changeaa change
4T5768374A→CE51D
7T1486789C→TR190S2-150
T4712793T→AL191H
8T1524892T→GM224R
12T103831429C→TS403
14T20831556A→GE4452-150
15T51002415C→TH732Y2-150
T8775
22T12193050C→TA9432-150
  • 2-150 Confirmed polymorphism: E445, H732Y and A943 were reported before.29 nt = nucleotide, aa = amino acid.