Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
53711c.1738C>Tp.Arg580XDI-DIINonsenseHaploinsufficiencySMEIFamilial(Maternal,mosaic,asympt),P=2/2Depienne C.2009,2010
SMEINAZuberi SM.2011
SMEINAArlier Z.2010


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
60c.1738C>Tp.Arg580X(DI-DII)NonsenseSMEINo symptom(Maternal)Mosaic(~0.02%)22/2Depienne C.2010