Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
992c.371T>Ap.Ile124AsnDIS1MissenseN→P/O (149)SME-Late onsetFamilial(Maternal,Mosaic,IGE),P=1/1 Depienne C.2009


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
16c.371T>Ap.Ile124Asn(DIS1)MissenseSMEIIGE(Maternal)Mosaic(~25%)21/1Depienne C.2009