Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 299 | IVS6 | c.965-2A>C | DIS5-S6 | Splice acceptor site | ND | SMEI | Familial(Paternal,mosaic,asympt),P=2/2 | Depienne C.2006 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 34 | c.965-2A>C | ND(DIS5-S6) | Splice acceptor site | SMEI | No symptom(Paternal) | Mosaic(5~10%) | 2 | 2/2 | Depienne C.2006 |
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Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China
Collaborative Innovation Center for Neurogenetics and Channelopathies, Guangzhou 510260, China.