| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1337 | 26 | c.5020G>C | p.Gly1674Arg | DIVS5 | Missense | N→P/﹢(125); LOF | SMEI | De novo | Ohmori I.2002 |
Functional information:
| Number | Nucleotide change | Protein change | Location | Phenotype | Functional defect type | Details of the major biophysical abnormalities. | Reference |
|---|---|---|---|---|---|---|---|
| 43 | c.5020G>C | p.Gly1674Arg(G1674R) | DIVS5 | SMEI | LOF | No measurable sodium current. | Rhodes TH.2004 |
| [c.5020G>C] Clinical description |
|---|
There was no detail description in article but the female patient had presented with the first seizure at the age of five months, and the patient's sister had febrile convulsions, while her mother had family history of epilepsy(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.