Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1654c.571A>Tp.Asn191TyrDIS3MissenseP/O→P/O (143)SMEIFamilial(Paternal,mosaic,IGE),P=1/1Depienne C.2009,2010


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
22c.571A>Tp.Asn191Tyr(DIS3)MissenseSMEIIGE(Paternal)Mosaic(~23%)21/1Depienne C.2010