Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
682c.269T>Cp.Phe90SerN-terminal MissenseN→P/O (155)IENASun H.2008a
NAWang JW.2012
SMEINAButler KM.2017
SMEIFather, FS at the early age,MOSAICXu X.2015


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
11c.269T>Cp.Phe90Ser(N-terminal)MissenseSMEIFS(paternal)mosaic (8.6%)21/2Xu X.2015