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Latest mutation
Table legend
| 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]). |
Copyright ©2014 Institute of Neuroscience and The Second Affiliated Hospital of Guangzhou Medical University
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.