| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1183 | IVS21 | c.4284+2T>C | DIIIS5-S6 | Splice donor site | Del. exon 21 | SMEI | NA | Wang JW.2012 |
Functional information:
| Number | Intron | Nucleotide change | Phenotype | Details of the abnormal result | Protein change | Reference |
|---|---|---|---|---|---|---|
| 2 | IVS 21 | c.4284+2T>C | SMEI | Deletion of exon 21. | p.Val1335_Val1428del | Meng H, Epilepsia 2013: 54(Suppl.3): 192 |
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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.