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 | Â | 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 | Â | Intron | 9 (11%) | R | LOVDa |
Intron 12 | c.1264-12 T>C | Â | Intron | 3 (4 %) | N | This study |
Intron 14 | c.1437-37 C>T | Â | 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 | Â | 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 | Â | Intron | 2 (2 %) | N | This study |
Intron 15 | c.1717-27 G>A | Â | Intron | 1 (1 %) | N | This study |
Intron 21 | c.2545+45 T>A | Â | 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 | Â | 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 | Â | Intron | 1 (1 %) | N | This study |
Intron 38 | c.5069-21 G>A | Â | Intron | 1 (1 %) | N | This study |
Intron 39 | c.5161-9 C>T | Â | Intron | 7 (8 %) | N | This study |