Table 1 Summary of the functional analysis of TSC1 missense variants from the LOVD TSC1 mutation database
Nucleotide change | Exon | Amino acid substitution | SIFT prediction | Effect on TSC1 function? (t-test) | Conclusion |
|---|---|---|---|---|---|
c.149T>C | 4 | p.L50P | not tolerated | yes (p = 0.03) | pathogenic |
c.153A>C | 4 | p.E51D | tolerated | no (p = 0.3) | neutral variant |
c.182T>C | 4 | p.L61P | not tolerated | yes (p = 0.002) | pathogenic |
c.278T>G | 5 | p.L93R | not tolerated | yes (p = 0.03) | pathogenic |
c.397G>T | 6 | p.V133F | not tolerated | yes (p = 0.005) | pathogenic |
c.569G>C | 7 | p.R190P | not tolerated | yes (p = 0.004) | pathogenic |
c.568C>T | 7 | p.R190C | not tolerated | no (p = 0.19) | neutral variant |
c.1001C>T | 10 | p.S334L | tolerated | no (p = 0.19) | neutral variant |
c.1433A>G | 14 | p.E478G | tolerated | no (p = 0.6) | possible splice mutation |
c.1648C>G | 15 | p.Q550E | tolerated | no (p = 0.9) | neutral variant |
c.1974C>G | 15 | p.D658E | tolerated | no (p = 0.13) | neutral variant |
c.1976C>T | 15 | p.A659V | tolerated | no (p = 0.1) | neutral variant |
c.2420T>C | 19 | p.I807T | tolerated | no (p = 0.18) | neutral variant |