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Latest mutation
Table legend
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 788 | 15 | c.2917A>G | p.Met973Val | DIIS6 | Missense | N→N (21) | CGE(FS) | Familial(Paternal,asympt),P=1/2 | Harkin LA.2007 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 83 | c.2917A>G | p.Met973Val(DIIS6) | Missense | CGE | No symptom(Paternal) | 2 | 1/2 | Harkin LA.2007 |
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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.