Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
112622c.4285G>Tp.Ala1429SerDIIIS5-S6MissenseN→P/O(99)ADNFLE Familial(Paternal,ADNFLE)Sone D.2012


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
84c.4285G>Tp.Ala1429Ser(DIIIS5-S6)MissenseADNFLEADNFLE(Paternal) Sone D.2012