Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
143526c.4888G>Cp.Val1630LeuDIVS3-S4MissenseN→N (32)SMEBNAWang JW.2012
SMEBFamilial(Maternal)Wang JW.2012
SME+AENAOkumura A.2012


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
136c.4888G>Cp.Val1630Leu(DIVS3-S4)MissenseSMEBNA(Maternal) Wang JW.2012