Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 12 | c.302G>A | p.Arg101Gln(N-terminal) | Missense | SMEI | FS+(Maternal) | Mosaic | 2 | 3/3 | Sun H.2010 |
| PEFS+ | FS+(Maternal) | Mosaic | 2 | 3/3 | Xu XJ.2012a |
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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.