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SCN1A mutations list 18/38
...   17    18    19    20    21    22    23    24   ...
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
85116c.3105delAp.Gln1035HisfsX11DII-DIIIFrameshiftHaploinsufficiencySMEINAIshii A.2017
85216c.3106C>T p.Gln1036X DII-DIII Nonsense HaploinsufficiencySME NA Xu X.2014
85316c.3112T>Cp.Phe1038LeuDII-DIIIMissenseN→N (22)ASDFamilial(Paternal,asympt),P=2/3Weiss LA.2003
85416c.3124C>Tp.Gln1042XDII-DIIINonsenseHaploinsufficiencyIENAWang JW.2012
85516c.3136delGp.Asp1046MetfsX9DII-DIIIFrameshiftHaploinsufficiencySMEIDe novoMyers KA.2017
85616c.3139G>Tp.Glu1047XDII-DIIINonsenseHaploinsufficiencySMEIDe novoZuberi SM.2011
85716c.3160C>Tp.Gln1036XDII-DIIINonsenseHaploinsufficiencySMEIDe novoLim BC.2011
SMENAXu X.2014
85816c.3166A>Gp.Asn1056AspDII-DIIIMissenseP/O→P/﹣(23)SMEINAL?fgren A.2010(unpublished)
85916c.3173_3176delAAGAp.Lys1058ThrfsX21DII-DIIIFrameshiftHaploinsufficiencySMEIDe novoMancardi MM.2006
86016c.3175G>Tp.Asp1059TyrDII-DIIIMissenseP/﹣→P/O(160)SMEINAZhou P.2018
86116c.3178_3181dupAGTTp.Cys1061XDII-DIIIFrameshiftHaploinsufficiencySMEIDe novoDepienne C.2009
86216c.3190_3193delATCA p.Asn1064IfsX14 DII-DIII Frameshift HaploinsufficiencySMEI NA Orrico A.2009
86316c.3195_3196delTAp.Thr1065SerfsX8DII-DIIIFrameshiftHaploinsufficiencySMEIDe novoNabbout R.2003
86416c.3196A>Gp.Thr1066AlaDII-DIIIMissenseP/O→N (58)SMEINAIshii A.2017
86516c.3202G>Ap.Glu1068LysDII-DIIIMissenseP/﹣→P/﹢ (56)SMEINADepienne C.2009
86616c.3231delAp.Asp1078MetfsX2DII-DIIIFrameshiftHaploinsufficiencySMEB-ODe novoHarkin LA.2007
86716c.3241G>Ap.Gly1081ArgDII-DIIIMissenseN→P/﹢ (125)JAENAEscayg A.2001
86816c.3245delCp.Thr1082IlefsX5DII-DIIIFrameshiftHaploinsufficiencySMEBDe novoOhmori I.2002
86916c.3250A>Tp.Ser1084CysDII-DIIIMissenseP/O→N (112)JME(No FS)Familial(Paternal,JME),P=2/2Jingami N.2014
87016c.3260G>Ap.Gly1087GluDII-DIIIMissenseN→P/﹣(98)GEFS+NACetica V.2017
87116c.3268dupAp.Ser1090LysfsX4DII-DIIIFrameshiftHaploinsufficiencyEp and/or NDDNALindy AS.2018
87216c.3282delAp.Lys1094AsnfsX13DII-DIIIFrameshiftHaploinsufficiencySMEINACetica V.2017
87316c.3295G>Tp.Glu1099XDII-DIIINonsenseHaploinsufficiencySMEIDe novoMancardi MM.2006
SMEIDe novoDepienne C.2009
SMEIDe novoRiva D.2009
87416c.3297_3298dupAAp.Ser1100LysfsX8DII-DIIIFrameshiftHaploinsufficiencySMEIDe novoClaes L.2001
87516c.3306C>Ap.Tyr1102XDII-DIIINonsenseHaploinsufficiencySMEIDe novoWang JW.2012
87616c.3307_3308delATp.Met1103ValfsX20DII-DIIIFrameshiftHaploinsufficiencySMEINAWang JW.2012
87716c.3311C>Ap.Ser1104XDII-DIIINonsenseHaploinsufficiencyNANADepienne C.2009
DSDe novoHern
87816c.3327_3328delCAp.Leu1111TyrfsX12DII-DIIIFrameshiftHaploinsufficiencySMEINAIshii A.2017
87916c.3373G>Tp.Glu1125XDII-DIIINonsenseHaploinsufficiencySMEIDe novoWang JW.2012
88016c.3361G>Tp.Glu1121XDII-DIIINonsenseHaploinsufficiencyEp and/or NDDNALindy AS.2018
88116c.3372delTp.Phe1124LeufsX4DII-DIIIFrameshiftHaploinsufficiencySMEINAZhang Y.2015
88216c.3380T>Gp.Leu1127X DII-DIIINonsenseHaploinsufficiencySMEIDe novoL?fgren A.2010(unpublished)
SMEINAOzmen M.2011
88316c.3384delCp.Asn1128LysfsX18DII-DIIIFrameshiftHaploinsufficiencySMEBDe novoLim BC.2011
88416c.3405delAp.Glu1135AspfsX11DII-DIIIFrameshiftHaploinsufficiencySMEIFamilial(Probably mosaic)L?fgren A.2010(unpublished)
88516c.3388delGp.Glu1130LysfsX16DII-DIIIFrameshiftHaploinsufficiencySMEINAIshii A.2017
88616c.3418G>Tp.Glu1140XDII-DIIINonsenseHaploinsufficiencySMEIDe novoL?fgren A.2010(unpublished)
88716c.3409delGp.Asp1137IlefsX9DII-DIIIFrameshiftHaploinsufficiencyEp and/or NDDNALindy AS.2018
88816c.3429+1G>T DII-DIIISplice donor siteNDSMEINAZuberi SM.2011
Epilepsy and/or NDDNALindy AS.2018
88916c.3424A>Tp.Lys1142XDII-DIIINonsenseHaploinsufficiencySMEINACetica V.2017
890IVS16c.3429+2T>C DII-DIIISplice donor siteNDPEFS+De novoKumakura A.2009
IENAWang JW.2012
891IVS16c.3429+3A>C DII-DIIISplice donor siteNDSMEINAWang JW.2012
892IVS16c.3429+5G>A DII-DIIISplice donor siteNDSMEIDe novoDepienne C.2009
893IVS16c.[3430-21C>A(;) 3550+16C>A] DII-DIIISplice acceptor siteNDSMEIDe novoSun H.2010
Compound
89416c.3429G>Ap.Glu1143GluDII-DIIISynonymousNDEp and/or NDDNALindy AS.2018
895IVS16c.3430-1G>A DII-DIIISplice acceptor siteNDSMEIDe novoMarini C.2007
IENAWang JW.2012
89617c.3438_3441delTGAAp.Asn1146LysfsX17DII-DIIIFrameshiftHaploinsufficiencySMEIDe novoWang JW.2012
897IVS16c.3430-3C>G DII-DIIISplice acceptor siteNDEFS+NAde Lange IM.2018
89817c.3434_3435delTGp.Leu1145GlnfsX2DII-DIIIFrameshiftHaploinsufficiencySMEIDe novoYang X.2017
89917c.3439G>T p.Glu1147X DII-DIIINonsense HaploinsufficiencySME NA Xu X.2014
SMEDe novoDjemie T.2016
90017c.3347delCp.Pro1116GlnfsX4DII-DIIINonsenseHaploinsufficiencySMEIDe novoMarini C.2007
SMENAXu X.2014
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