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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 |
|---|---|---|---|---|---|---|---|---|---|
| 99 | 2 | c.371T>A | p.Ile124Asn | DIS1 | Missense | N→P/O (149) | SME-Late onset | Familial(Maternal,Mosaic,IGE),P=1/1 | Depienne C.2009 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 16 | c.371T>A | p.Ile124Asn(DIS1) | Missense | SMEI | IGE(Maternal) | Mosaic(~25%) | 2 | 1/1 | Depienne C.2009 |
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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.