Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1624c.568T>Cp.Trp190ArgDIS3MissenseN→P/﹢(101)SMEI NAFukuma G.2004
SMEI NAWang JW.2012
SMEFamilial(Maternal,asympt),P=1/2 Xu XJ.2012b


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
21c.568T>Cp.Trp190Arg W190R W190R(DIS3)MissenseSMEINo symptom(Maternal) 21/2Xu XJ.2012b