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SCN1A mutations list 19/38
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NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
90117c.3439_3442delGAAAinsTGCTTp.Glu1147CysfsX4DII-DIIIFrameshiftHaploinsufficiencySMEINAMoller RS.2016
90217c.3448_3449delAGp.Ser1150LeufsX5DII-DIIIFrameshiftHaploinsufficiencySMEINAZuberi SM.2011
90317c.3452C>Gp.Ser1151XDII-DIIINonsenseHaploinsufficiencySMEINADepienne C.2009
SMEDe novoGaily . 2013
90417c.3455C>Ap.Ser1152XDII-DIIINonsenseHaploinsufficiencySMEINAXu X.2015
90517c.3457G>Tp.Glu1153XDI-DIINonsenseHaploinsufficiencyDSDe novoHern
90617c.3462delTp.Ser1155AlafsX9DII-DIIIFrameshiftHaploinsufficiencySMEIDe novoHarkin LA.2007
90717c.3463insTp.Ser1155XDII-DIIIFrameshiftHaploinsufficiencySMEIDe novoSun H.2010
90817c.3477delC p.Ile1159fsX5 DII-DIII Frameshift HaploinsufficiencySMENA Xu X.2014
90917c.3483_3489del7p.Pro1162LysfsX5DII-DIIIFrameshiftHaploinsufficiencySMEINAZuberi SM.2011
91017c.3485delCp.Pro1162LeufsX2DII-DIIIFrameshiftHaploinsufficiencyIENAWang JW.2012
91117c.3487delGp.Val1163XDII-DIIIFrameshiftHaploinsufficiencySMEIDe novoSun H.2010
91217c.3496C>Tp.Gln1166XDII-DIIINonsenseHaploinsufficiencySMEINAIshii A.2017
91317c.3497delAp.Gln1166ArgfsX3DII-DIIIFrameshiftHaploinsufficiencySMEINAIshii A.2017
91417c.3503dupTp.Val1169SerfsX4DII-DIIIFrameshiftHaploinsufficiencyNADe novoL?fgren A.2010(unpublished)
91517c.3515A>Cp.Glu1172AlaDII-DIIIMissenseP/﹣→N (107)SMEINACho MJ.2018
91617c.3521C>Gp.Thr1174SerDII-DIIIMissenseP/O→P/O (58); G-LOFMyoclonusNAEscayg A.2001
NAGargus JJ.2007
Familial(Maternal,asympt),P=1/2Yordanova I.2011
NARilstone JJ.2012
Familial(Maternal),p=5/5Cest
Familial(Maternal, HM),P=2/2
Benign familial neonatal seizure/JMEFamilial(BFNE Maternal,BFNE,P=2/2; JME Maternal,asympt; P=1/2),,Affected generations:2Lal D.2016
91717c.3524_3525delTTp.Leu1175ArgfsX8DII-DIII FrameshiftHaploinsufficiencySMEIDe novoFukuma G.2004
SMEIDe novoWang JW.2012
91817c.3526delGp.Glu1176AsnfsX32DII-DIIIFrameshiftHaploinsufficiencySMEIDe novoWillemsen MH.2012
91917c.3539_3542delGTTTp.Cys1180SerfsX27DII-DIIIFrameshiftHaploinsufficiencySMEINAZuberi SM.2011
92017c.3547delGp.Glu1183LysfsX25DII-DIIIFrameshiftHaploinsufficiencySMEIDe novoYang X.2017
921IVS17c.3550+1G>A DII-DIIISplice donor siteNDSMEIFamilial(Maternal,mosaic,asympt),P=2/2Gennaro E.2006
922IVS17c.3550+2T>C DII-DIIISplice donor siteNDSMEINARilstone JJ.2012
923IVS17c.[3550+16C>A(;)3430-21C>A] DII-DIII Splice acceptor site NDSMEI De novo Sun H.2010
Compound
92418c.3553delTp.Cys1185ValfsX23DII-DIIIFrameshiftHaploinsufficiencyEp and/or NDDNALindy AS.2018
92518c.3555T>Ap.Cys1185XDII-DIIINonsenseHaploinsufficiencySMEIDe novoZuberi SM.2011
92618c.3561_3562delAAp.Gln1187fsX29DII-DIIIFrameshiftHaploinsufficiencySMEIDe novoHarkin LA.2007
92718c.3569delAp.Lys1190SerfsX18DII-DIIIFrameshiftHaploinsufficiencySMEINACetica V.2017
92818c.3574_3575delTGinsACAAAGATTCCACATp.Cys1192ThrfsX29DII-DIIIFrameshiftHaploinsufficiencySMEINAIshii A.2017
92918c.3580delAp.Ile1194SerfsX14DII-DIIIFrameshiftHaploinsufficiencyEE(SME suspected)De novoVeeramah KR.2013
93018c.3580_3584delATCAAp.Ile1194CysfsX21DII-DIIIFrameshiftHaploinsufficiencySMEINACho MJ.2018
93118c.3601G>Tp.Gly1201XDII-DIIINonsenseHaploinsufficiencySMEBNAZuberi SM.2011
93218c.3607C>Tp.Gln1203XDII-DIIINonsenseHaploinsufficiencyEp and/or NDDNALindy AS.2018
93318c.3608delAp.Gln1203HisfsX5DII-DIIIFrameshiftHaploinsufficiencySMEINAMcArdle EJ.2008
93418c.3610T>Cp.Trp1204ArgDII-DIIIMissenseN→P/﹢(101); GOFGEFS+Familial(Paternal,GEFS+),P=5/5Escayg A.2001
GEFS+Familial(Paternal,FS)Marini C.2007
93518c.3611G>Cp.Trp1204SerDII-DIIIMissenseN→P/O(177)GEFS+NAZuberi SM.2011
93618c.3611G>Ap.Trp1204XDII-DIIINonsenseHaploinsufficiencySMEINASugawara T.2002
93719c.3615G>A p.Trp1205X DII-DIII Nonsense HaploinsufficiencySME NA Xu X.2014
93818c.3620T>Cp.Leu1207ProDII-DIIIMissenseN→N (98)SMEINAZucca C.2008
93918c.3623G>Ap.Arg1208LysDII-DIIIMissenseP/﹢→P/﹢ (26)SMEBFamilial(Maternal)Zuberi SM.2011
94018c.3628_3630delACGp.Thr1210delDII-DIIIIn-frame deletionNDSMEINAL?fgren A.2010(unpublished)
94118c.3629C>Ap.Thr1210LysDII-DIIIMissenseP/O→P/﹢ (78)SMEIDe novoSun H.2010
SMEINAXu X.2014
94218c.3629C>Tp.Thr1210MetDII-DIIIMissenseP/O→→N (81)GEFS+Familial.Paternal,asympt),P=1/2Cetica V.2017
94318c.3633T>Ap.Cys1211XDII-DIIINonsenseHaploinsufficiencySMEINACho MJ.2018
94418c.3637C>Tp.Arg1213XDII-DIIINonsenseHaploinsufficiencySMEINAFujiwara T.2003
SMEI1De novo;1NADepienne C.2009
SMEIDe novoZuberi SM.2011
IENAWang JW.2012
LGSDe novoAllen AS.2013
SMENAXu X.2014
Epilepsy and/or NDDNALindy AS.2018
94518c.3638G>Ap.Arg1213GlnDII-DIIIMissenseP/﹢→P/O(43)IENAWang JW.2012
94618c.3641T>Gp.Ile1214ArgDIIIS1MissenseN→P/﹢ (97)SMEIDe novoKwong AK.2012
94718c.3641_3642dupTAp.Val1215XDIIIS1FrameshiftHaploinsufficiencySMEINANabbout R.2003
94818c.3646G>Ap.Glu1216LysDIIIS1MissenseP/﹣→P/﹢ (56)SMEINAIshii A.2017
94918c.3646G>Tp.Glu1216XDIIIS1NonsenseHaploinsufficiencySMEIDe novoYang X.2017
95018c.3655_3685delinsATA p.Trp1219IlefsX42 DIIIS1 Frameshift HaploinsufficiencySME De novo Gaily E.2013
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