Mutation information:
Inheritance information:
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1271 | 23 | c.4467G>C | p.Gln1489His | DIII-DIV | Missense | P/O→P/﹢(24) | FHM + ERDB | Familial(Maternal,FHM), p=5/5 | Vahedi K. 2009 |
| SMEB | De novo | L?fgren A.2010(unpublished) |
Inheritance information:
| Number | Nucleotide change | Protein change | Mutation type | Proband's phenotype | 1st transmitter's phenotype | Mosaic | Affected generations | Penetrance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 118 | c.4467G>C | p.Gln1489His(DIII-DIV) | Missense | FHM + ERDB | FHM(Maternal) | 5/5 | 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.