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Table 1 List of 14 novel missense TSC2 mutations

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

  1. Boldface is used to differentiate familial case from sporadic case