Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1144c.580G>Ap.Asp194AsnDIS3MissenseP/﹣→P/O (23)SMEIDe novoMancardi MM.2006
SMEB-ODe novoHarkin LA.2007
SMEIFamilial(Paternal, mosaic,GEFS+),P=1/1Azmanov DN.2010
SMEINAZuberi SM.2011
MAE or SMENAKodera H.2013



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
17c.580G>Ap.Asp194Asn(DIS3)MissenseSMEIGEFS+(Paternal)Mosaic(30~35%)21/1Azmanov DN.2010



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