|
Polymorphisms identified for TSC1 and TSC2 in Taiwanese TSC population. |
||||||
| 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 |
|
|
* Frequence means the number of cases in 84 Taiwanese TSC patients. a The the Leiden Open (source) Variation Database which was available at http://chromium.liacs.nl/lovd/. b The database of Dr David Kwiatkowski which was available at http://tsc-project.partners.org/. | ||||||
Hung et al. BMC Medical Genetics 2006 7:72 doi:10.1186/1471-2350-7-72 |
||||||