Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
73420c.3985C>Tp.Arg1329XDIIIS4NonsenseHaploinsufficiencySMEIDe novoDepienne C.2009
Familial(Maternal,mosaic,migraine),P=2/2Selmer KK.2009a
UnclassifiedNAZuberi SM.2011



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
74c.3985C>Tp.Arg1329X(DIIIS4)NonsenseSMEIMigraine(Maternal)Mosaic(~5%) 22/2Selmer KK.2009a



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