SCN1A mutations list 3/38
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1012c.379C>Tp.His127TyrDIS1MissenseP/﹢→P/O (83)GEFS+De novoDjemie T.2016
1022c.380A>Tp.His127LeuDIS1MissenseP/﹢→N (99)SMEINAXu X.2015
1032c.383C>Ap.Ser128XDIS1NonsenseHaploinsufficiencySMEIDe novoNabbout R.2003
FS+NAZuberi SM.2011
SMEDe novo Carvill GL.2014
104IVS2c.383+1A>G DIS1Splice donor siteNDLGSDe novoSelmer KK.2009b
SMENAXu X.2014
105IVS2c.383+1A>C DIS1Splice donor siteNDSMEIDe novoDepienne C.2009
106IVS2c.383+2T>G DIS1Splice donor siteNDSMEIDe novoMancardi MM.2006
SMEIDe novoMahdieh N.2018
107IVS2c.383+5C>A DIS1Splice donor siteNDEp and/or NDDNALindy AS.2018
108IVS2c.384-1C>G DIS1Splice acceptor siteNDSMEINAXu X.2015
109IVS2c.384-20G>C DIS1Splice acceptor siteNDSMEBNAMahdieh N.2018
110IVS2c.384-21T>A DIS1Splice acceptor siteNDGEFS+NACetica V.2017
1113c.387_389delATTp.Leu129delDIS1In-frame deletionNDSMEIDe novoMancardi MM.2006
1122c.393C>Gp.Ser131ArgDIS1MissenseP/O→P/﹢ (110)Intellectual disability, ataxia, stroke-like episodes & seizuresNAFry AE.2016
1133c.408delCinsGAp.Cys136TrpfsX14 DIS1FrameshiftHaploinsufficiencySMEINACho MJ.2018
1143c.412_413delATp.Ile138PhefsX11DIS1FrameshiftHaploinsufficiencySMEIFamilial(Paternal)Zuberi SM.2011
1153 c.413T>C p.Ile138Thr DIS1Missense N→P/O (89)SMEDe novoGaily E.2013
1163c.419delCp.Thr140LysfsX6DIS1FrameshiftHaploinsufficiencySMEBDe novoL?fgren A.2010(unpublished)
1173c.419C>Gp.Thr140ArgDIS1MissenseP/O→P/﹢ (78)SMEINAIshii A.2017
1183c.426dupTp.Val143fsX16DIS1FrameshiftHaploinsufficiencySMEIDe novoWang JW.2012
1193c.429_430delGTp.Phe144TyrfsX5DIS1FrameshiftHaploinsufficiencySMEINAZuberi SM.2011
SMEIDe novoFukuma G.2004
IEDe novoWang JW.2012
SMENA Villeneuve N.2014
1203c.433_434delATp.Met145AspfsX4DIS1FrameshiftHaploinsufficiencyPEFS+De novoYu MJ.2010
1213c.433A>Gp.Met145ValDIS1MissenseN→N (21)SMEINAXu X.2015
1223c.434T>Cp.Met145ThrDIS1MissenseN→P/O (81); pLOFPEFS+(FS&TLE)Familial(Maternal,FS),P=5/5Mantegazza M.2005,Colosimo E.2007
1233c.434T>Ap.Met145LysDIS1MissenseN→P/﹢ (95)Ep and/or NDDNALindy AS.2018
1243c.437C>Ap.Thr146LysDIS1MissenseP/O→P/﹢(78)NANAL?fgren A.2010(unpublished)
Intellectual disabilityNAAnazi S.2017
1253c.458G>Ap.Trp153XDIS1-S2NonsenseHaploinsufficiencySMEBNAZuberi SM.2011
SMEINAL?fgren A.2010(unpublished)
SMEINAOzmen M.2011
1263c.459G>Ap.Trp153XDIS1-S2NonsenseHaploinsufficiencySMEINACho MJ.2018
1273c.472G>Cp.Glu158GlnDIS1-S2MissenseP/-→P/O (29)Ep and/or NDDNALindy AS.2018
128IVS3c.473+1G>A DIS2Splice donor siteNDSMEIDe novoDepienne C.2009
129IVS3c.473+3A>C DIS2Splice donor siteNDSMEIDen ovoKwong AK.2012
130IVS3c.473+5G>A DIS2Splice donor siteNormal transcripts﹢ del.exon 3 and partial exon 2SMEINADepienne C.2009
131IVS3c.473+1G>C DIS2Splice donor siteNDSMEINAXu X.2015
132IVS3c.473+1G>T DIS2Splice donor siteNDSMEINAIshii A.2017
133IVS3c.474-1G>A DIS2Splice donor siteNDSMEIDe novoZuberi SM.2011
134IVS3c.474-2A>C DIS2Splice donor siteNDSMEIDe novoDepienne C.2009
135IVS3c.474-3C>G DIS2Splice acceptor siteNDFE(MCDs)De novoBarba C.2014
136IVS3c.[474-13T>A(;)602+5G>A] DIS2Splice acceptor siteNDSMEINAHarkin LA.2007
Compound
137IVS3c.474-1G>C DIS2Splice acceptor siteNDSMEIDe novoZhou P.2018
1384c.476delAp.Tyr159SerfsX13DIS2FrameshiftHaploinsufficiencyEp and/or NDDNALindy AS.2018
1394c.484A>Cp.Thr162Pro DIS2MissenseP/O→N (38)SMEIDe novoMancardi MM.2006
1403c.485C>Tp.Thr162IleDIS1-S2MissenseP/O→N (89)SMEINACetica V.2017
1414c.488G>Ap.Gly163GluDIS2MissenseN→P/﹣(98)SMENAHattori J.2008
1424c.495T>Ap.Tyr165XDIS2NonsenseHaploinsufficiencySMEIDe novoNabbout R.2003
1434c.495_496ins GTGAATCp.Thr166ValfsX5DIS2FrameshiftHaploinsufficiencySMEIDe novoHarkin LA.2007
1444c.504dupAp.Ser169IlefsX108DIS2FrameshiftHaploinsufficiencySMENALe Gal F.2010
FE(MCDs)NABarba C.2014
1454c.505T>Cp.Ser169ProDIS1-S2MissenseP/O→N (74)SMEIMOSAICYang X.2017
Ep and/or NDDNALindy AS.2018
1464c.512T>Ap.Ile171LysDIS2MissenseN→P/﹢(102)SMEB-SWDe novoHarkin LA.2007
1474c.512T>Gp.Ile171ArgDIS2MissenseN→P/﹢(97)SMEIDe novoDepienne C.2009
1484c.523G>Ap.Ala175ThrDIS2MissenseN→P/O (58)SMEB-ODe novoHarkin LA.2007
1494c.524C>T p.Ala175ValDIS2MissenseN→N (64)SMEIDe novoDepienne C.2009
1504c.529G>Ap.Gly177ArgDIS2-S3MissenseN→P/﹢(125)SMENAHattori J.2008
SMEIDe novoReyes IS.2011