From: Decoding of novel missense TSC2 gene variants using in-silico methods
S.No. | Patient ID | Inheritance | TSC2 Exon Number | Mutation Site | Amino acid alteration | Domain-wise distribution in tuberin |
---|---|---|---|---|---|---|
1 | TS-116 | Sporadic | 20 | c.2150 T > C | p.Leu717Pro | Domain 2 |
2 | TS-7 | Familial | 34 | c.4490C > T | p.Pro1497Leu | Domain 3 |
3 | TS-9 | Sporadic | 6 | c.581A > T | p.Tyr194Phe | Domain 1 |
4 | TS-97 | Sporadic | 18 | c.1930 T > G | p.Cys644Gly | Domain 2 |
5 | TS-59 | Sporadic | 14 | c.1516A > G | p.Lys506Glu | Domain 2 |
6 | TS-101 | Sporadic | 38 | c.4859A > C | p.His1620Pro | Domain 3 |
7 | TS-112 | Familial | 39 | c.5018 T > C | p.Val1673Ala | Domain 3 |
8 | TS-67 | Sporadic | 11 | c.1058 T > C | p.Leu353Pro | Domain 1 |
9 | TS-35 | Sporadic | 16 | c.1835 T > C | p.Leu612Pro | Domain 2 |
10 | TS-54 | Sporadic | 16 | c.1636G > A | p.Glu546Lys | Domain 2 |
11 | TS-42 | Familial | 13 | c.1361G > A | p.Arg454Lys | Domain 1 |
12 | TS-43 | Sporadic | 31 | c.3713C > T | p.Ala1238Val | Domain 3 |
13 | TS-48 | Sporadic | 10 | c.896 T > A | p.Val299Glu | Domain 1 |
14 | TS-32 | Sporadic | 31 | c.3715G > A | p.Glu1230Lys | Domain 3 |