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Table 1 Status of TSC1 mutations in Taiwanese patients with TSC

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

No.

Gene

Exon

Nucleotide change

Codon change

Mutation type

Inheritance

Reported

Reference

62

TSC1

7

c.602_604del CCT

 

In-frame deletion

S

N

This study

61

TSC1

15

c.1525C>T

p.R509X

Nonsense

F

R

[5]

72

TSC1

15

c.1791_1792dupAA

 

Frameshift

S

N

This study

2

TSC1

15

c.1884_1887delAAAG

 

Frameshift

F

R

[5]

36

TSC1

15

c.1959dupA

 

Frameshift

S

R

LOVD*

54

TSC1

17

c.2074C>T

p.R692X

Nonsense

S

R

[5]

31

TSC1

18

c.2283C>A

p.Y761X

Nonsense

S

R

[24]

3

TSC1

18

c.2332C>T

p.Q778X

Nonsense

S

N

This study

41

TSC1

18

c.2356C>T

p.R786X

Nonsense

S

R

[5]

Total: 9, F:2, S:7, N:3, R:6 MM:0, NM:5, FM:4, SM:0.

  1. F: familial case, S:sporadic case.
  2. N: non-reported, R: reported.
  3. MM: missense mutations, NM: nonsense mutations, FM: frameshift/in-frame mutations, SM: splicing site mutations.
  4. * The the Leiden Open (source) Variation Database which was available at http://chromium.liacs.nl/lovd/