Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1132 | 21 | c.4135G>T | p.Val1379Leu | DIIIS5-S6 | Missense | N→N (32) | PEFS+ | Familial(Maternal,GEFS+),P=4/4 | Mhanni AA.2011 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 108 | c.4135G>T | p.Val1379Leu(DIIIS5-S6) | Missense | PEFS+ | GEFS+(Maternal) | 2 | 4/4 | Mhanni AA.2011 |
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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.