Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
104120c.3924A>Tp.Glu1308Asp DIIIS3-S4 MissenseP/﹣→P/﹣(45)FSFamilialOrrico A.2009
SMEIFamilial(Paternal,asympt),P=1/2Nicita F.2010
SMEIFamilial(Maternal)Zuberi SM.2011
FSNAMaksemous N.2016
FSNALal D.2016


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
101c.3924A>Tp.Glu1308Asp(DIIIS3-S4)MissenseFSNA Orrico A.2009
SMEINo symptom(Paternal) 21/2Nicita F.2010
SMEINA(Maternal) Zuberi SM.2011