Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
173326c.5726C>Tp.Thr1909IleC-terminalMissenseP/O→N (89); G-LOF SMEINAOhmori I.2002

Functional information:
NumberNucleotide changeProtein changeLocationPhenotypeFunctional defect type Details of the major biophysical abnormalities.Reference
54c.5726C>Tp.Thr1909Ile(T1909I)C-terminalSMEI G-LOF Reduced current density. Small persistent current.Ohmori I.2006

[c.5726C>T] Clinical description

There was no detail description in article but the female patient had presented with the first seizure at the age of seven months, and no family history of convulsion disorder(Ohmori I,et al. Biochem Biophys Res Commun. 2002 Jul 5;295(1):17-23.[12083760]).