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Latest mutation
Table legend
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1290 | 24 | c.4495T>C | p.Phe1499Leu | DIII-DIV | Missense | N→N (22) | FHM + ERDB | Familial(Maternal,FHM),p=4/4 | Vahedi K. 2009 |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 120 | c.4495T>C | p.Phe1499Leu(DIII-DIV) | Missense | FHM + ERDB | FHM(Maternal) | 3 | 4/4 | Vahedi K, 2009 |
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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.