| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 705 | 15 | c.2705T>G | p.Phe902Cys | DIIS5 | Missense | N→N (205); LOF | SMEI | NA | Ohmori I.2002 |
Functional information:
| Number | Nucleotide change | Protein change | Location | Phenotype | Functional defect type | Details of the major biophysical abnormalities. | Reference |
|---|---|---|---|---|---|---|---|
| 17 | c.2705T>G | p.Phe902Cys(F902C) | DIIS5 | SMEI | LOF | No measurable sodium current. | Rhodes TH.2004 |
| [c.2705T>G] Clinical description |
|---|
There was no detail description in artcle but the male patient had presented with the first seizure at the age of 5 months, and the patient's brother had febrile convulsions(Ohmori I,et al. Biochem Biophys Res Commun. 2002 Jul 5;295(1):17-23.[12083760]). |
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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.