Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 537 | 11 | c.1738C>T | p.Arg580X | DI-DII | Nonsense | Haploinsufficiency | SMEI | Familial(Maternal,mosaic,asympt),P=2/2 | Depienne C.2009,2010 |
| SMEI | NA | Zuberi SM.2011 | |||||||
| SMEI | NA | Arlier Z.2010 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 60 | c.1738C>T | p.Arg580X(DI-DII) | Nonsense | SMEI | No symptom(Maternal) | Mosaic(~0.02%) | 2 | 2/2 | Depienne C.2010 |
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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.