| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1304 | 26 | c.4942C>T | p.Arg1648Cys | DIVS4 | Missense | P/﹢→N (180); G-LOF | SMEI | NA | Ohmori I.2002 |
| SMEI | NA | Orrico A.2009 | |||||||
| SMEI | 2NA | Zuberi SM.2011 |
Functional information:
| Number | Nucleotide change | Protein change | Location | Phenotype | Functional defect type | Details of the major biophysical abnormalities. | Reference |
|---|---|---|---|---|---|---|---|
| 37 | c.4942C>T | p.Arg1648Cys(R1648C) | DIVS4 | SMEI | G-LOF | Bigger persistent current comparing with R1648H. Hypoexcitable (positive) shift of activation, reduced channel availability by negative shift of inactivation and positive shift of activation. | Rhodes TH.2005 |
| [c.4942C>T] Clinical description |
|---|
There was no detail description in article but the female patient had presented with the first seizure at the age of three months, and the patient's paternal cousin 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.