Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
2316c.715G>Ap.Ala239ThrD1S4-S5MissenseN→P/O (58)SMEB-SWFamilial(Paternal, FS+),P=2/2Harkin LA.2007
SMEIDe novoSun H.2008a
SMEINACetica V.2017


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
28c.715G>Ap.Ala239Thr(DIS4-S5)MissenseSMEBFS+(Paternal) 2/2Harkin LA.2007