Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
281c.133G>Ap.Asp45AsnN-terminalMissenseP/﹣→P/O (23)UnclassifiedNAZuberi SM.2011
Epilepsy-Aphasia,FS+Familial(Paternal,FS+),P=3/3Carvill GL.2013


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
3c.133G>Ap.Asp45Asn(N-terminal)MissenseEA with FS+FS+(Paternal) 2 Carvill GL.2013