Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
331c.172G>Ap.Gly58ArgN-terminalMissenseN→P/﹢ (125)FS+Migraine in the maternal lineDella Mina E.2015


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
6c.172G>Ap.Gly58Arg(N-terminal)MissenseFS+Migraine (maternal line) 21/2Della Mina E.2015