Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
90624c.4547C>Ap.Ser1516XDIII-DIVNonsenseHaploinsufficiencySMEINASugawara T.2002
SMEIDe novoMancardi MM.2006
SMEIDe novoHarkin LA.2007
SMEIDe novoDepienne C.2009
SMEI2Familial(Paternal)Zuberi SM.2011



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
93c.4547C>Ap.Ser1516X(DIII-DIV)NonsenseSMEINA (Paternal) Zuberi SM.2011
SMEINA (Paternal) Zuberi SM.2011



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