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 | Â | 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 | Â | Frameshift | S | N | This study |
2 | TSC1 | 15 | c.1884_1887delAAAG | Â | Frameshift | F | R | [5] |
36 | TSC1 | 15 | c.1959dupA | Â | 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. |