| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 130 | IVS3 | c.473+5G>A | DIS2 | Splice donor site | Normal transcripts﹢ del.exon 3 and partial exon 2 | SMEI | NA | Depienne C.2009 |
Functional information:
| Number | Intron | Nucleotide change | Phenotype | Details of the abnormal result | Protein change | Reference |
|---|---|---|---|---|---|---|
| 4 | IVS 3 | c.473+5G>A | PEFS+ | Normal transcripts, and aberrant transcripts with deletion of exon 3 and partial exon 2 (8bp) . | p.Val126IlefsX10 | 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.