By variant position
By protein location
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Latest mutation
Table legend
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 277 | 6 | c.865G>T | p.Glu289X | DIS5-S6 | Nonsense | Haploinsufficiency | SMEI | Familial(Maternal,PE),P=2/2 | Nabbout R.2003 |
| SMEI | De novo | Orrico A.2009 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 31 | c.865G>T | p.Glu289X(DIS5-S6) | Nonsense | SMEI | Partial epilepsy(Maternal) | 2 | 2/2 | Nabbout R.2003 |
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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.