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SCN1A mutations list 4/38
  1    2    3    4    5    6    7    8   ...
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1514c.530delGp.Gly177AspfsX4DIS2-S3FrameshiftHaploinsufficiencySMEINAFujiwara T.2003
1524c.530G>Ap.Gly177GluDIS2-S3MissenseN→P/﹣(98); LOFSMEIDe novoNabbout R.2003
SMENAVerbeek NE.2013
SMEInUsluer S.2016
1534c.530G>Tp.Gly177ValDIS1-S2MissenseN→N (109)SMEINACetica V.2017
SMEINASun H.2015
SMEINASun H.2015
1544c.533T>Cp.Phe178SerDIS2-S3MissenseN→P/O (155)IENAWang JW.2012
1554c.535T>Cp.Cys179ArgDIS2-S3MissenseN→P/﹢ (180)SMEINAWang JW.2012
1564c.539delTp.Leu180XDIS2-S3NonsenseHaploinsufficiencySMEIDe novoLiu J.2018
1574c.541G>Tp.Glu181XDIS2-S3NonsenseHaploinsufficiencyGEFS+Familial Orrico A.2009
1584c.543delAp.Asp182IlefsX34DIS2-S3FrameshiftHaploinsufficiencySMEIDe novoYang X.2017
1594c.549dupTp.Thr184TyrfsX93DIS2-S3FrameshiftHaploinsufficiencySMEB NAL?fgren A.2010(unpublished)
Epilepsy and/or NDDNALindy AS.2018
1604c.554T>Cp.Phe185SerDIS2-S3MissenseN→P/O (155)SMEB NAL?fgren A.2010(unpublished)
1614c.563A>Tp.Asp188ValDIS2-S3MissenseP/﹣→N (152); IE GEFS+Familial(Paternal, FS+),P=8/9 Wallace RH.2001
NARilstone JJ.2012
1624c.568T>Cp.Trp190ArgDIS3MissenseN→P/﹢(101)SMEI NAFukuma G.2004
SMEI NAWang JW.2012
SMEFamilial(Maternal,asympt),P=1/2 Xu XJ.2012b
1634c.569G>Ap.Trp190XDIS3NonsenseHaploinsufficiencySMEIDe novoKwong AK.2012
1644c.570G>Ap.Trp190XDIS3NonsenseHaploinsufficiencySMEIDe novoMarini C.2007
1654c.571A>Tp.Asn191TyrDIS3MissenseP/O→P/O (143)SMEIFamilial(Paternal,mosaic,IGE),P=1/1Depienne C.2009,2010
1664c.572A>Cp.Asn191ThrDIS3MissenseP/O→P/O(65)SMEINAIshii A.2017
1674c.573C>Gp.Asn191LysDIS3MissenseP/O→P/﹢(94)SMEINADepienne C.2009
1684c.575G>Ap.Trp192XDIS3NonsenseHaploinsufficiencySMEIDe novoDepienne C.2009
1694c.577C>Tp.Leu193PheDIS3MissenseN→N (22)GEFS+Familial(Paternal,GEFS+),P=9/9Cui XK.2011
1704c.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
SMEINACho MJ.2018
Epilepsy and/or NDDNALindy AS.2018
1714c.580G>Cp.Asp194His DIS3 Missense P/﹣→P/﹢(81) SMEINAZuberi SM.2011
1724c.581A>Gp.Asp194GlyDIS2MissenseP/﹣→N (94)SMEINADepienne C.2009
1734 c.581A>Cp.Asp194Ala DIS3 MissenseP/﹣→N (126) SME NA Lee HF.2014
1744c.596C>Gp.Thr199ArgDIS3MissenseP/O→P/﹢(71)SMEB-SWDe novoHarkin LA.2007
175IVS4c.596_602+3del10p.T199SfsX15DIS3Splice donor siteNDSMEINACho MJ.2018
176IVS4c.602+1G>A DIS3Splice donor siteDel. exon 4SMEIDe novoFujiwara T.2003
SMEIDe novoMancardi MM.2006
SMEIDe novoHarkin LA.2007
SMEIFamilial(Paternal,mosaic,GEFS+),P=2/2Marini C.2007
SMEIDe novoMarini C.2007
SMEIFamilial(Maternal,mosaic,asympt),p=2/3Depienne C.2010
NA3De novoDepienne C.2009
SMEI/UnclassifiedDe novo;3NAZuberi SM.2011
SMEIDe novoNicita F.2010
SMEIDe novoPetrelli C.2012
SMEIDe novoWang JW.2012
SMEDe novo Petrelli C.2012
SME+AENA Okumura A.2012
FE(MCDs)De novoBarba C.2014
SMENA Lee HF.2014
SMENA Xu X.2014
Epilepsy and/or NDDNALindy AS.2018
177IVS4c.602+1G>T DIS3Splice donor siteNDSMEIDe novoMancardi MM.2006
NADe novoDepienne C.2009
SMEBNAVilleneuve N.2014
178IVS4c.602+1G>C DIS3Splice donor siteHaploinsufficiencySMENADjemie T.2016
Ep and/or NDDNALindy AS.2018
179IVS4 c.602+2T>A DIS3Splice donor siteNDSMEINAZuberi SM.2011
Epilepsy and/or NDDNALindy AS.2018
180IVS4c.602+5delG DIS3Splice donor siteNDSMEIDe novoLim BC.2011
181IVS4c.[602+5G>A(;)474-13T>A] DIS3Splice donor siteNDSMEINAHarkin LA.2007
Compound
182IVS4c.602+7_8insTG DIS3Splice donor siteNDIENAWang JW.2012
1834c.602C>Ap.Ala201GluDIS3MissenseN→P/﹣(107)SMEINADo TT.2017
Ep and/or NDDNALindy AS.2018
184IVS4c.602+3_602+6delAAGT DIS3Splice donor siteNDEp (syndromic)NATumiene B.2018
185IVS4c.602+3A>C DIS3Splice donor siteNDSMEINAXu X.2015
186IVS4c.603-2A>G DIS3 Splice acceptor site NDSME De novo Catarino CB.2011
1875c.603G>T DIS3Splice acceptor siteNDSMEIDe novoL?fgren A.2010(unpublished)
SMEIDe novoMahdieh N.2018
188IVS4c.603-1G>A DIS3Splice acceptor siteNDEp and/or NDDNALindy AS.2018
1895c.604T>Gp.Tyr202AspDIS3MissenseP/O→P/﹣(160)SMEIDe novoL?fgren A.2010(unpublished)
1905c.606C>Ap.Tyr202XDIS3NonsenseHaploinsufficiencySMEIDe novoWang JW.2012
1915c.620T>Gp.Val207GlyDIS3MissenseN→N (109)EE (early infantile)NADaoud H.2016
1925c.625dupCp.Leu209ProfsX68DIS3-S4FrameshiftHaploinsufficiencySMEINAMoller RS.2016
1935c.629dupGp.Asn211GlnfsX66DIS3-S4NonsenseHaploinsufficiencyNADe novoL?fgren A.2010(unpublished)
1945c.629G>Ap.Gly210AspDIS3-S4MissenseN→P/﹣(94)SMEINAIshii A.2017
1955c.635T>Cp.Val212AlaDIS3-S4MissenseN→N (64)SMENAHattori J.2008
1965c.637_650delTCGGCATTGAGAACinsCACAp.Ser213HisfsX9DIS3-S4FrameshiftHaploinsufficiencyEp and/or NDDNALindy AS.2018
1975c.638C>Gp.Ser213TrpDIS3-S4MissenseP/O→N (177)NADe novoL?fgren A.2010(unpublished)
Febrile & aFS and developmental delayNAButler KM.2017
1985c.644_655delTGAGAA CATTCAp.Leu215_Arg219delinsfsXDIS3-S4FrameshiftHaploinsufficiencySMEINAKo A.2018
1995c.650C>Gp.Thr217ArgDIS4MissenseP/O→P/﹢(71)GEFS+Familial(Maternal)L?fgren A.2010(unpublished)
2005c.650C>Ap.Thr217LysDIS4MissenseP/O→P/﹢(78)SMEIDe novoMancardi MM.2006
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