Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
173526c.5734C>Tp.Arg1912XC-terminalNonsenseHaploinsufficiencySMEIDe novoFukuma G.2004
SMEIFamilial(Paternal,mosaic,asympt),P=1/1Depienne C.2009,2010
SMEIDe novoDepienne C.2009,2010
SMEINAOzmen M.2011
SMEIDe novoReyes IS.2011
SMEINAWang JW.2012
SMEBNAWang JW.2012


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
170c.5734C>Tp.Arg1912X(C-terminal)NonsenseSMEINo symptom(Paternal)Mosaic(~9%)21/1Depienne C.2010