Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 502 | 10 | c.1624C>T | p.Arg542X | DI-DII | Nonsense | Haploinsufficiency | SMEI | De novo | Mancardi MM.2006 |
| SMEI | De novo | Depienne C.2009 | |||||||
| SMEI | De novo | Marini C.2007 | |||||||
| SMEI | Familial(Maternal,mosaic,asympt),P=2/2 | Depienne C.2006 | |||||||
| SME | De novo | Sun H.2010 | |||||||
| SMEI | NA | Zuberi SM.2011 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 38 | c.1624C>T | p.Arg542X(DI-DII) | Nonsense | SMEI | No symptom(Maternal) | Mosaic(~25%) | 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.