Skip to main content

Table 3 Polymorphisms identified for TSC1 and TSC2 in Taiwanese TSC population.

From: Molecular and clinical analyses of 84 patients with tuberous sclerosis complex

TSC1

Exon

Nucleotide change

Codon change

Polymorphism type

Frequency

Reported

Reference

Intron 3

c.106+15

 

Intron

13 (16 %)

N

This study

10

c.965 T>C

p.M322T

Missense

9 (11%)

R

[24]

Intron 11

c.1142-33 A>G

 

Intron

9 (11%)

R

LOVDa

Intron 12

c.1264-12 T>C

 

Intron

3 (4 %)

N

This study

Intron 14

c.1437-37 C>T

 

Intron

9 (11%)

R

LOVDa

15

c.1726 T>C

p.L576L

Silent

11 (13 %)

N

This study

15

c.1960 C>G

p.Q654E

Missense

3 (4 %)

N

This study

Intron 18

c.2392-35 T>C

 

Intron

9 (11%)

R

[24]

22

c.2829 C>T

p.A943A

Silent

3 (4 %)

R

[24]

TSC2

Exon

Nucleotide change

Codon change

Polymorphism type

Frequency

Reported

Reference

14

c.1593 C>T

p.I531I

Silent

3 (4 %)

R

[26]

Intron 15

c.1717-30 G>A

 

Intron

2 (2 %)

N

This study

Intron 15

c.1717-27 G>A

 

Intron

1 (1 %)

N

This study

Intron 21

c.2545+45 T>A

 

Intron

11 (13 %)

N

This study

23

c.2652 C>T

p.Y884Y

Silent

1 (1 %)

N

This study

26

c.3126 G>T

p.P1042P

Silent

1 (1 %)

R

DKb

Intron 27

c.3285-19 C>T

 

Intron

1 (1 %)

N

This study

29

c.3475 C>T

p.R1159R

Silent

1 (1 %)

N

This study

33

c.4047 G>A

p.A1349A

Silent

2 (2 %)

N

This study

Intron 33

c.4493+18 G>A

 

Intron

1 (1 %)

N

This study

Intron 38

c.5069-21 G>A

 

Intron

1 (1 %)

N

This study

Intron 39

c.5161-9 C>T

 

Intron

7 (8 %)

N

This study

  1. * Frequence means the number of cases in 84 Taiwanese TSC patients.
  2. a The the Leiden Open (source) Variation Database which was available at http://chromium.liacs.nl/lovd/
  3. b The database of Dr David Kwiatkowski which was available at http://tsc-project.partners.org/