SCN1A mutations list 15/38
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
70115c.2686G>Tp.Val896PheDIIS5MissenseN→N (50)SMEBNAWang JW.2012
70214c.2686_2694delGTCTTGGCCp.Val896_Ala898delDIIS5In-frame deletionNDEp and/or NDDNALindy AS.2018
70315c.2690T>Cp.Leu897SerDIIS5MissenseN→P/O (145)SMEINAXu X.2015
70415 c.2696T>Cp.Ile899ThrDIIS5 MissenseN→P/O (89)GEFS+Familial Orrico A.2009
LGSDe novoAllen AS.2013
GEFS+NABennett CA.2017
70515c.2705T>Gp.Phe902CysDIIS5MissenseN→N (205); LOF SMEINAOhmori I.2002
70615c.2713G>Ap.Ala905ThrDIIS5MissenseN→P/O (58)SMEINAIshii A.2017
Ep and/or NDDNALindy AS.2018
70715c.2713G>Cp.Ala905ProDIIS5MissenseN→N (27)Developmental and epileptic encephalopathyDe novoHamdan FF.2017
70815c.2717delTp.Val906GlyfsX29DIIS5FrameshiftHaploinsufficiencySMEINAIshii A.2017
70915c.2719G>Tp.Val907PheDIIS5MissenseN→N (50)FENAHildebrand MS.2016
71015c.2722G>Cp.Gly908ArgDIIS5MissenseN→P/﹢ (125)Ep and/or NDDNALindy AS.2018
71115c.2726dupTp.Met909IlefsX6DIIS5FrameshiftHaploinsufficiencyGEFS+De novoL?fgren A.2010(unpublished)
71215 c.2728C>A p.Gln910Lys DIIS5 Missense P/O→P/﹢(53) SME NA Xu X.2014
71315c.2729A>Tp.Gln910LeuDIIS5MissenseP/O→N (113)SMEINAIshii A.2017
71415c.2743delAp.Ser915AlafsX20DIIS5-S6FrameshiftHaploinsufficiencySMEBDe novoKearney JA.2006
71515c.2752delGp.Asp918IlefsX17DIIS5-S6FrameshiftHaploinsufficiencySMEINASun H.2010
71615c.2769G>Ap.Met923IleDIIS5-S6MissenseN→N (10)SMEIPaternalLiu J.2018
71715c.2773delAp.Ser925ValfsX10DIIS5-S6FrameshiftHaploinsufficiencyEp and/or NDDNALindy AS.2018
71815c.2780G>Tp.Cys927PheDIIS5-S6MissenseN→N (205)SMEIDe novoDepienne C.2009
71915c.2782C>Tp.Gln928XDIIS5-S6NonsenseHaploinsufficiencyEp and/or NDDNALindy AS.2018
72015c.2785delCp.Leu929SerfsX6DIIS5-S6FrameshiftHaploinsufficiencySMEINATsuji M.2011
72115c.2791C>Tp.Arg931Cys DIIS5-S6MissenseP/﹢→N (180)SMEIDe novoOhmori I.2002
SMEBDe novoOhmori I.2002
SMEIDe novoDepienne C.2009
Epilepsy and/or NDDNALindy AS.2018
72215 c.2792G>Ap.Arg931HisDIIS5-S6MissenseP/﹢→P/﹢(29)UnclassifiedNAZuberi SM.2011
SMEIDe novoL?fgren A.2010(unpublished)
SMENACatarino CB.2011
SMEINARilstone JJ.2012
SMENAXu X.2014
Epilepsy and/or NDDNALindy AS.2018
72315 c.2792G>C p.Arg931Pro DIIS5-S6 Missense P/﹢→N (103)SME NA Xu X.2014
72415c.2794T>Ap.Trp932ArgDIIS5-S6MissenseN→P/﹢ (101)SMEIDe novoKothur K.2018
72515c.2796G>Cp.Trp932CysDIIS5-S6MissenseN→N (215)SMEINAZuberi SM.2011
72615c.2796G>Ap.Trp932XDIIS5-S6NonsenseHaploinsufficiencySMEIDe novoClaes L.2003
SMENADhamija R.2014
72715c.2798A>Cp.His933ProDIIS5-S6MissenseP/﹢→N (77)SMEINAZuberi SM.2011
72815c.2801T>Gp.Met934ArgDIIS5-S6MissenseN→P/﹢(91)Ep and/or NDDNALindy AS.2018
72915c.2802G>Cp.Met934IleDIIS5-S6MissenseN→N (10)SMEIDe novoFukuma G.2004
SMEINADepienne C.2009
SMEIDe novoWang JW.2012
SMEINAWang JW.2012
73015c.2802G>Ap.Met934Ile DIIS5-S6MissenseN→N (10)SMEBDe novoFukuma G.2004
IEDe novoWang JW.2012
SMEINAZhang C.2018
73115c.2803A>Cp.Asn935HisDIIS5-S6MissenseP/O→P/﹢(68) PEFS+Familial(Paternal,GEFS+),P=2/2Sun H.2008b
73215c.2805dupT p.Asp936XDIIS5-S6FrameshiftHaploinsufficiencyNANAL?fgren A.2010(unpublished)
SMEINAOzmen M.2011
73315c.2806G>Tp.Asp936TyrDIIS5-S6MissenseP/﹣→P/O (160)Ep and/or NDDNALindy AS.2018
73415 c.2807A>T p.Asp936Val DIIS5-S6 Missense P/﹣→N (152)SME De novo Lin W.2013
73515c.2815C>Tp.His939TyrDIIS5-S6MissenseP/﹢→P/O(83)SMEIDe novoSun H.2010
73615c.2816A>Gp.His939ArgDIIS5-S6MissenseP/﹢→P/﹢(29) SMEIDe novoL?fgren A.2010(unpublished)
73715c.[2816A>C(;)5364C>A]p.[His939Pro(;)Asn1788Lys]DIIS5-S6Missense[P/﹢→N (77); P/O→P/﹢(94)]SMEI NADepienne C.2009
Compound
73815c.2817C>Gp.His939GlnDIIS5-S6MissenseP/﹢→P/O(24); LOF SMEIDe novoClaes L.2003
73915c.2819C>Tp.Ser940PheDIIS5-S6MissenseP/O→N (155)SMEINAWang JW.2012
MissenseIENAWang JW.2012
74015c.2824_2836del13p.Leu942AlafsX8DIIS5-S6FrameshiftHaploinsufficiencyUnclassifiedDe novoZuberi SM.2011
74115c.2824C>Gp.Leu942ValDIIS5-S6MissenseN→N (32)SMEI and GEFS+NAMoller RS.2016
74215c.2825T>Cp.Leu942ProDIIS5-S6MissenseN→N (98)SMEIDe novoMancardi MM.2006
74315c.2827_2830delATTGp.Ile943CysfsX10DIIS5-S6FrameshiftHaploinsufficiencySMEIDe novoDepienne C.2009
74415c.2828T>Ap.Ile943AspDIIS5-S6MissenseN→P/﹣(168)SMEINADepienne C.2009
74515 c.2831T>Cp.Val944AlaDIIS5-S6MissenseN→N (64)SMEBDe novoFukuma G.2004
IEDe novoWang JW.2012
74615c.2831T>Ap.Val944GluDIIS5-S6MissenseN→P/﹣(121)SMEIDe novoHarkin LA.2007
SMEINARodda JM.2012
74715c.2833T>Cp.Phe945LeuDIIS5-S6MissenseN→N (22)SMEIDe novoHarkin LA.2007
74815c.2835delCp.Arg946fsX8DIIS5-S6FrameshiftHaploinsufficiencySMEIDe novoFujiwara T.2003
74915c.2836C>Tp.Arg946CysDIIS5-S6MissenseP/﹢→N (180); LOF SMEIDe novoFukuma G.2004
SMEBNAFukuma G.2004
SMEI2De novoZuberi SM.2011
SMEIDe novoVolkers L.2011
SMEIDe novoWang JW.2012
SMEBNAWang JW.2012
SMENAXu X.2014
SMENALee HF.2014
Epilepsy and/or NDDNALindy AS.2018
75015c.2836C>Ap.Arg946SerDIIS5-S6MissenseP/﹢→P/O(110)SIGEIDe novoEbach K.2005
TLE-MTSDe novoTiefes AM.2019