Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
2366c.[730G>T(;) 735G>T(;) 736A>T]p.[Val244Leu(;)Lys245Asn(;)Lys246X]DIS4-S5Missense[N→N (32); P/﹢→P/O (94); Haploinsufficiency]SMEIFamilial(Maternal,mosaic,asympt),P=2/2Morimoto M.2006
Compound


Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
29c.[730G>T(;) 735G>T(;) 736A>T]p.[Val244Leu(;)Lys245Asn(;)Lys246X](DIS4-S5)Compound mutationSMEINo symptom(Maternal)Mosaic(~15%)22/2Morimoto M.2006