SCN1A mutations list 1/26
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
11c.1A>Tp.Met1?N-terminalStart codon mutationNDSMENADepienne C.2009
21c.2T>Cp.Met1ThrN-terminalStart codon mutationNDSMEINAZuberi SM.2011
31c.3G>Ap.Met1? N-terminalStart codon mutationNDNADe novoLöfgren A.2010(unpublished)
41c.7C>Tp.Gln3XN-terminalNonsenseHaploinsufficiencySMEIDe novoClaes L.2003
N-terminalSMEIDe novoLim BC.2011
51c.21_22insA c.22C>Ap.Pro8fsX12N-terminalFrameshiftHaploinsufficiencySMEIDe novoWang JW.2012
61c.28G>Tp.Gly10XN-terminalNonsenseHaploinsufficiencySMEI-likeNALöfgren A.2010(unpublished)
71c.41delTp.Phe14SerfsX78N-terminalFrameshiftHaploinsufficiencySMEIDe novoHarkin LA.2007
81c.49_51delTTCp.Phe17delN-terminalIn-frame deletionNDSMEINAZuberi SM.2011
91c.55A>Tp.Arg19XN-terminalNonsenseHaploinsufficiencySMENALee HF.2014
101c.58G>Tp.Glu20XN-terminalNonsenseHaploinsufficiencySMEIDe novoCeulemans BP.2004
SMENADepienne C.2009
N-terminalIENAWang JW.2012
111c.67dupGp.Ala24GlyfsX4N-terminalFrameshiftHaploinsufficiencySMEINAZuberi SM.2011
121c.70G>Ap.Ala24ThrN-terminalMissenseN→P/O (58)SME NAXu X.2014
131c.76G>Tp.Glu26XN-terminalNonsenseHaploinsufficiencySMEINAZuberi SM.2011
141c.78_79delAAp.Arg27ThrfsX17N-terminalFrameshiftHaploinsufficiencyGEFS+NALöfgren A.2010(unpublished)
151c.80G>Cp.Arg27ThrN-terminalMissenseN→P/﹢(112)GEFS+Familial(Paternal,asympt),P=1/2Nicita F.2010
SMEBNACatarino CB.2011
161c.82C>Tp.Arg28Cys N-terminalMissense P/﹢→N (180)GEFS+NALossin C.2009
171c.111delCp.Lys38fsX54N-terminalFrameshiftHaploinsufficiencySMEIDe novoWallace RH.2003
SMEDe novoDepienne C.2009
181c.121A>Tp.Lys41X N-terminal Nonsense HaploinsufficiencySMENAXu X.2014
191c.126delAp.Asp43MetfsX47N-terminalFrameshiftHaploinsufficiencySME with AENATakayanagi M.2010
SMEINAWang JW.2012
201c.127delGp.Asp43MetfsX49N-terminalFrameshiftHaploinsufficiencySMEIDe novoDepienne C.2009
211c.133G>Ap.Asp45AsnN-terminalMissenseP/﹣→P/O (23)UnclassifiedNAZuberi SM.2011
Epilepsy-Aphasia,FS+Familial(Paternal,FS+),P=3/3Carvill GL.2013
221c.172G>Tp.Gly58XN-terminalNonsenseHaploinsufficiencySMEIDe novoZuberi SM.2011
FE(MCDs)De novoBarba C.2014
231c.173G>Tp.Gly58ValN-terminalMissenseN→N (109)SMEINADepienne C.2009
241c.181C>Tp.Leu61PheN-terminalMissenseN→N (22)SMEINADepienne C.2009
251c.184delC p.Pro62fsX30N-terminal Frameshift HaploinsufficiencySME NAXu X.2014
261c.187T>Cp.Phe63LeuN-terminalMissenseN→N (22)SMEIFamilial(Paternal,asympt),P=1/2Nicita F.2010
271c.195T>Ap.Tyr65XN-terminalNonsenseHaploinsufficiencySMEIDe novoZucca C.2008
281c.203T>Cp.Ile68ThrN-terminalMissenseN→P/O (89)SMEBFamilial(Maternal)Zuberi SM.2011
291c.220T>Cp.Ser74ProN-terminalMissenseP/O→N (74)FS+De novoMarini C.2007
301c.234G>Tp.Glu78AspN-terminalMissenseP/﹣→P/﹣(45)SMEIDe novoNabbout R.2003
311c.235G>Ap.Asp79AsnN-terminalMissenseP/﹣→P/O (23)SMEIDe novoZuberi SM.2011
321c.235G>Cp.Asp79HisN-terminalMissenseP/﹣→P/﹢(81)SMEB-ODe novoHarkin LA.2007
SMEDe novoDepienne C.2009
331c.243C>Ap.Asp81GluN-terminalMissenseP/﹣→P/﹣(45)SMEBDe novoLöfgren A.2010(unpublished)
341c.249C>Ap.Tyr83XN-terminalNonsenseHaploinsufficiencySMEBDe novoZuberi SM.2011
351c.249C>Gp.Tyr83XN-terminalNonsenseHaploinsufficiencySMEIDe novoNabbout R.2003
SMEIDe novoMarini C.2007
361c.251A>Gp.Tyr84CysN-terminalMissenseP/O→N (194)SMEIDe novoHarkin LA.2007
SMEIDe novoWang JW.2012
SMEINAWang JW.2012
37IVS1c.264+2T>C N-terminal Splice donor siteNDSMEIDe novoWang JW.2012
38IVS1c.264+5G>A N-terminalSplice donor siteNDSMEIDe novoMancardi MM.2006
39IVS1c.264+5G>C N-terminal Splice donor siteNDSMENALee HF.2014
40IVS1c.264+4_264+7delAGTG N-terminalSplice donor siteNDSMEINAZuberi SM.2011
41IVS1c.265-3C>T N-terminalSplice acceptor siteNDGEFS+Familial(Maternal)Zuberi SM.2011
42IVS1c.265-3C>A N-terminalSplice acceptor siteNDSMEIDe novoMarini C.2007
43IVS1c.265-1G>A N-terminalSplice acceptor siteNDSMEIDe novoHarkin LA.2007
SMEDepienne C.2009
44IVS1c.265-1G>C N-terminalSplice acceptor siteNDNADe novoDepienne C.2009
452c.269T>Cp.Phe90SerN-terminal MissenseN→P/O (155)IENASun H.2008a
NAWang JW.2012
462c.272T>Cp.Ile91ThrN-terminalMissenseN→P/O (89)SMEIDe novoSun H.2008a
472c.272_273delTAp.Ile91SerfsX4N-terminalFrameshift HaploinsufficiencySMEINADepienne C.2009
SMEBNA Villeneuve N.2014
482 NAp.Ile91fsN-terminalFrameshift HaploinsufficiencySME NALee HF.2014
492c.277_278delTTp.Leu93GlufsX2N-terminalFrameshiftHaploinsufficiencySMEIDe novoMancardi MM.2006
Riva D.2009
502c.278T>C p.Leu93SerN-terminal MissenseN→P/O (145)SMENALee HF.2014