Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1415 | 26 | c.5347G>A | p.Ala1783Thr | DIVS6 | Missense | N→P/O(58) | SME | De novo | Dj |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 125 | c.5347G>A | p.Ala1783Thr(DIVS6) | Missense | SMEI | GEFS+(Maternal) | Mosaic | 2 | 1/1 | Petrelli C.2012 |
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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.