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Latest mutation
Table legend
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1487 | 26 | c.5002C>G | p.Pro1668Ala | DIVS4-S5 | Missense | N→N (27) | SMEI | Familial(Maternal,asympt),P=2/3 | Nabbout R.2003 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 147 | c.5002C>G | p.Pro1668Ala(DIVS5) | Missense | SMEI | No symptom(Maternal) | 2 | 2/3 | Nabbout R.2003 |
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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.