Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
381c.187T>Cp.Phe63LeuN-terminalMissenseN→N (22)SMEIFamilial(Paternal,asympt),P=1/2Nicita F.2010


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
8c.187T>Cp.Phe63Leu(N-terminal)MissenseSMEINo symptom(PaternaL) 21/2Nicita F.2010