| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1495 | 26 | c.5726C>T | p.Thr1909Ile | C-terminal | Missense | P/O→N (89); G-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 |
|---|---|---|---|---|---|---|---|
| 54 | c.5726C>T | p.Thr1909Ile(T1909I) | C-terminal | SMEI | G-LOF | Reduced current density. Small persistent current. | Ohmori I.2006 |
| [c.5726C>T] Clinical description |
|---|
There was no detail description in article but the female patient had presented with the first seizure at the age of seven months, and no family history of convulsion disorder(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.