SCN1A mutations list 1/32
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 N-terminalStart codon mutationNDNADe novoL?fgren A.2010(unpublished)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Tp.Gly10XN-terminalNonsenseHaploinsufficiencySMEI-likeNAL?fgren A.2010(unpublished)
71c.41delTp.Phe14SerfsX78N-terminalFrameshiftHaploinsufficiencySMEIDe novoHarkin LA.2007
81c.49_51delTTCp.Phe17delN-terminalIn-frame deletionNDSMEINAZuberi SM.2011
91c.32_36delCTGACinsAp.Pro11GlnfsX80N-terminalFrameshiftHaploinsufficiencyEE (early infantile)De novoWei CM.2018
101c.32delCp.Pro11LeufsX81N-terminalFrameshiftHaploinsufficiencySMEINAIshii A.2017
111c.55A>Tp.Arg19XN-terminalNonsenseHaploinsufficiencySMENALee HF.2014
121c.58G>Tp.Glu20XN-terminalNonsenseHaploinsufficiencySMEIDe novoCeulemans BP.2004
SMENADepienne C.2009
N-terminalIENAWang JW.2012
131c.67dupGp.Ala24GlyfsX4N-terminalFrameshiftHaploinsufficiencySMEINAZuberi SM.2011
141c.53_55delCCAp.Thr18delN-terminalIn-frame deletionNDSMEINADjemie T.2016
151c.70G>Ap.Ala24ThrN-terminalMissenseN→P/O (58)SME NAXu X.2014
161c.76G>Tp.Glu26XN-terminalNonsenseHaploinsufficiencySMEINAZuberi SM.2011
171c.78_79delAAp.Arg27ThrfsX17N-terminalFrameshiftHaploinsufficiencyGEFS+NAL?fgren A.2010(unpublished)
181c.80G>Cp.Arg27ThrN-terminalMissenseN→P/﹢(112)GEFS+Familial(Paternal,asympt),P=1/2Nicita F.2010
SMEBNACatarino CB.2011
191c.82C>Tp.Arg28Cys N-terminalMissense P/﹢→N (180)GEFS+NALossin C.2009
201c.111delCp.Lys38fsX54N-terminalFrameshiftHaploinsufficiencySMEIDe novoWallace RH.2003
SMEDe novoDepienne C.2009
211c.121A>Tp.Lys41X N-terminal Nonsense HaploinsufficiencySMENAXu X.2014
221c.126delAp.Asp43MetfsX47N-terminalFrameshiftHaploinsufficiencySME with AENATakayanagi M.2010
SMEINAWang JW.2012
231c.94G>Tp.Glu32XN-terminalNonsenseHaploinsufficiencyEp and/or NDDNALindy AS.2018
241c.99G>Tp.Lys33AsnN-terminalMissenseP/﹢→P/O (94)GEFS+NACetica V.2017
251c.127delGp.Asp43MetfsX49N-terminalFrameshiftHaploinsufficiencySMEIDe novoDepienne C.2009
261c.133G>Ap.Asp45AsnN-terminalMissenseP/﹣→P/O (23)UnclassifiedNAZuberi SM.2011
Epilepsy-Aphasia,FS+Familial(Paternal,FS+),P=3/3Carvill GL.2013
271c.172G>Tp.Gly58XN-terminalNonsenseHaploinsufficiencySMEIDe novoZuberi SM.2011
FE(MCDs)De novoBarba C.2014
281c.173G>Tp.Gly58ValN-terminalMissenseN→N (109)SMEINADepienne C.2009
291c.181C>Tp.Leu61PheN-terminalMissenseN→N (22)SMEINADepienne C.2009
301c.135C>Gp.Asp45GluN-terminalMissenseP/﹣→P/﹣(45)SMEIFamilial.Paternal,asympt)Zhou P.2018
311c.140delAp.Asn47MetfsX45N-terminalFrameshiftHaploinsufficiencyEP and NDDmosaic pathogenic variantStosser MB.2018
321c.141delTp.Asn47LysfsX45N-terminalFrameshiftHaploinsufficiencyEp and/or NDDNALindy AS.2018
331c.184delC p.Pro62fsX30N-terminal Frameshift HaploinsufficiencySME NAXu X.2014
341c.172G>Ap.Gly58ArgN-terminalMissenseN→P/﹢ (125)FS+Migraine in the maternal lineDella Mina E.2015
351c.187T>Cp.Phe63LeuN-terminalMissenseN→N (22)SMEIFamilial(Paternal,asympt),P=1/2Nicita F.2010
361c.195T>Ap.Tyr65XN-terminalNonsenseHaploinsufficiencySMEIDe novoZucca C.2008
371c.182T>Cp.Leu61ProN-terminalMissenseN→N (98)SMEIHeterozygous, paternal mosaicNolan D.2016
381c.203T>Cp.Ile68ThrN-terminalMissenseN→P/O (89)SMEBFamilial(Maternal)Zuberi SM.2011
391c.220T>Cp.Ser74ProN-terminalMissenseP/O→N (74)FS+De novoMarini C.2007
401c.234G>Tp.Glu78AspN-terminalMissenseP/﹣→P/﹣(45)SMEIDe novoNabbout R.2003
411c.235G>Ap.Asp79AsnN-terminalMissenseP/﹣→P/O (23)SMEIDe novoZuberi SM.2011
421c.235G>Cp.Asp79HisN-terminalMissenseP/﹣→P/﹢(81)SMEB-ODe novoHarkin LA.2007
SMEDe novoDepienne C.2009
431c.225G>Tp.Glu75AspN-terminalMissenseP/﹣→P/﹣(45)SMEIDe novoArafat A.2017
441c.226C>Ap.Pro76ThrN-terminalMissenseN→P/O (38)SMEIDe novoIshii A.2017
451c.230T>Cp.Leu77ProN-terminalMissenseN→N (98)SMEIDe novoKothur K.2018
461c.230T>Cp.Leu77ProN-terminalMissenseN→N(98)SMEIDe novoKothur K.2018
471c.232G>Tp.Glu78XN-terminalNonsenseHaploinsufficiencySMEINASurovy M.2016
481c.233_242delAGGACCTGGAinsGTp.Glu78GlyfsX7N-terminalFrameshiftHaploinsufficiencyEp and/or NDDNALindy AS.2018
491c.243C>Ap.Asp81GluN-terminalMissenseP/﹣→P/﹣(45)SMEBDe novoL?fgren A.2010(unpublished)
501c.249C>Ap.Tyr83XN-terminalNonsenseHaploinsufficiencySMEBDe novoZuberi SM.2011