Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
832c.307A>Gp.Ser103GlyN-terminalMissenseP/O→N (56)SMEI Familial(Paternal)Ebrahimi A.2010
NAFujiwara T.2003
SMENATonekaboni SH.2013


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
13c.307A>Gp.Ser103Gly(N-terminal)MissenseSMEINA(Paternal) Ebrahimi A.2010