Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
127023c.4465C>Ap.Gln1489LysDIII-DIVMissenseP/O→P/﹢(53); pLOF FHMFamilial(Maternal,FHM),p=13/13Dichgans M.2005

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
33c.4465C>Ap.Gln1489Lys(Q1489K) DIII-DIV FHM f pLOF Increased persistent current but also enhanced entry into slow inactivation as well as delayed recovery from fast and slow inactivation, thus resulting in a predominantly loss-of-function phenotype further demonstrated by a greater loss of channel availability during repetitive stimulation. Kahlig KM.2008

Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
117c.4465C>Ap.Gln1489Lys(DIII-DIV)MissenseFHMFHM(Maternal) 13/13Dichgans M.2005

[c.4465C>A] Clinical description

Three families with eighteen affected members is presented in article, including family 10, 15, 16. All of affected individuals experienced hemiplegic migraine with frequency from weekly to yearly and duration from 20 minutes to 2days (Dichgans M, et al. Lancet. 2005 Jul 30-Aug 5;366(9483):371-7.[16054936]).