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SCN1A mutations list 27/38
...   25    26    27    28    29    30    31    32   ...
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
130124c.4524T>Ap.Tyr1508XDIII-DIVNonsenseHaploinsufficiencySMEINAZuberi SM.2011
130224c.4526delAp.Asn1509MetfsX3DIII-DIVFrameshiftHaploinsufficiencySMEIDe novoHarkin LA.2007
130326c.4529C>A p.Ala1510Glu DIII-DIV Missense N→P/﹣(107)LGS De novo Allen AS.2013
130424c.4529C>Gp.Ala1510GlyDIII-DIVMissenseN→N ((60)Abnormality of the nervous systemNARetterer K.2016
130524c.4532T>Ap.Met1511LysDIII-DIVMissenseN→P/﹢(95)IENAWang JW.2012
130624c.4532T>Gp.Met1511ArgDIII-DIVMissenseN→P/﹢(91)Ep and/or NDDNALindy AS.2018
130724c.4539dupAp.Leu1514IlefsX23DIII-DIVFrameshiftHaploinsufficiencySMEIDe novoDepienne C.2009
130824c.4539delAp.Lys1513AsnfsX2DIII-DIVFrameshiftHaploinsufficiencySMEINAWang JW.2012
130924c.4541T>Cp.Leu1514SerDIII-DIVMissenseN→P/O(145)GEFS+Familial(Maternal,IGE),P=1/1Depienne C.2009
131024c.4543G>Ap.Gly1515ArgDIII-DIVMissenseN→P/﹢ (125)Ep and/or NDDNALindy AS.2018
131124c.4545delAp.Ser1516ArgfsX23DIII-DIVFrameshiftHaploinsufficiencySMEINAL?fgren A.2010(unpublished)
131224c.4547C>Ap.Ser1516XDIII-DIVNonsenseHaploinsufficiencySMEINASugawara T.2002
SMEIDe novoMancardi MM.2006
SMEIDe novoHarkin LA.2007
SMEIDe novoDepienne C.2009
SMEI2Familial(Paternal)Zuberi SM.2011
Epilepsy and/or NDDNALindy AS.2018
131324c.4547C>Gp.Ser1516TrpDIII-DIVMissenseP/O→N ((177)SMEINAXu X.2015
131424c.4547C>Tp.Ser1516LeuDIII-DIVMissenseP/O→N(145)Ep and/or NDDNALindy AS.2018
131524c.4548delGp.Lys1518AsnfsX21DIII-DIVFrameshiftHaploinsufficiencyEp and/or NDDNALindy AS.2018
131624c.4549A>Tp.Lys1517XDIII-DIVNonsenseHaploinsufficiencySMEINAXu X.2015
1317IVS23c.4549-1G>C DIII-DIVSplice acceptor siteNDSMEIDe novoLiu J.2018
131824c.4554dupAp.Pro1519ThrfsX18DIII-DIVFrameshiftHaploinsufficiencySMEINAMarini C.2007
IENAWang JW.2012
Epilepsy and/or NDDNALindy AS.2018
131924c.4554delAp.Lys1518AsnfsX21DIII-DIVFrameshiftHaploinsufficiencySMEIDe novoDepienne C.2009
132024c.4555C>Ap.Pro1519ThrDIII-DIVMissenseN→P/O(38)GEFS+NAL?fgren A.2010(unpublished)
SMENAMoehring J.2013
Epilepsy and/or NDDNALindy AS.2018
132124c.4555C>Tp.Pro1519SerDIII-DIVMissenseN→P/O (74)EpNAHesse AN.2018
132224c.4556C>Tp.Pro1519LeuDIII-DIVMissenseN→N (98)Ep and/or NDDNALindy AS.2018
132324c.4558delCp.Gln1520LysfsX19DIII-DIVFrameshiftHaploinsufficiencySMEIDe novoKwong AK.2012
132424c.4562delAp.Lys1521SerfsX18DIII-DIVFrameshiftHaploinsufficiencyEpNAHesse AN.2018
132524c.4568T>C p.Ile1523Thr DIII-DIV Missense N→P/O (89)SME NA Catarino CB.2011
132624c.4573C>Tp.Arg1525XDIII-DIVNonsenseHaploinsufficiencySMEINAKearney JA.2006
SMEINAHarkin LA.2007
SMEIDe novoDepienne C.2009
SMEIDe novoOrrico A.2009
SMEINAVadlamudi L.2010
SMEI/SMEB2De novo;1NAZuberi SM.2011
SMEIDe novoWang JW.2012
SMEDe novoDjemie T.2016
SMEIDe novoDo TT.2017
Epilepsy and/or NDDNALindy AS.2018
132724c.4574G>Ap.Arg1525GlnDIII-DIVMissenseP/﹢→P/﹣ (43)SMEINACetica V.2017
SMEINABinini N.2017
132824c.4577delCp.Pro1526GlnfsX13DIII-DIVFrameshiftHaploinsufficiencySMEINAZuberi SM.2011
1329IVS24c.4581+1G>A DIII-DIVSplice donor siteNDSMEINADepienne C.2009
1330IVS24c.4581+2dupT DIII-DIVSplice donor siteNDSMEINADepienne C.2009
1331IVS24c.4581+1G>C DIII-DIVSplice donor siteNDSMEINAWang JW.2012
1332IVS24c.4581+2T>G DIII-DIVSplice donor siteNDSMEIDe novoMancardi MM.2006
SMEIDe novoMahdieh N.2018
1333IVS24c.4581+2T>C DIII-DIVSplice donor siteNDSMEBNAWang JW.2012
Epilepsy and/or NDDNALindy AS.2018
1334IVS24c.4581+3A>T DIII-DIVSplice donor siteNDSMEI/UnclassifiedFamilial(Paternal);NAZuberi SM.2011
1335IVS24 c.4581+5G>C DIII-DIV Splice donor site NDSME NA Lee HF.2014
1336IVS24c.4581+2T>A DIII-DIVSplice donor siteNDSMEIDe novoYang X.2017
1337IVS24c.4582-3T>C DIII-DIVSplice acceptor siteNDIENAWang JW.2012
1338IVS24c.4582-4A>G DIII-DIVSplice acceptor siteNDSMEINAL?fgren A.2010(unpublished)
SMEINAMahdieh N.2018
1339IVS24 c.4582-11T>G DIII-DIV Splice site NDSME De novo Gaily E.2013
1340IVS24c.4582-2A>T DIII-DIVSplice acceptor siteNDSMEIDe novoZuberi SM.2011
1341IVS24c.4582-1G>T DIII-DIVSplice acceptor siteNDSMEINADepienne C.2009
IEEMother negativeKwong AK-Y.2015
1342IVS24c.4582-1G>C DIII-DIVSplice acceptor siteNDSMEIDe novoLiu J.2018
134324c.4584C>Gp.Asn1528LysDIII-DIVMissenseP/O→P/﹢ (94)SMEINAIshii A.2017
134424c.4587delAp.Lys1529AsnfsX9DIII-DIV linkerFrameshiftHaploinsufficiencyDSNASkjei KL.2015
134524c.4589insAp.Lys1517ins1536XDIII-DIVFrameshiftHaploinsufficiencySMEIDe novoMarini C.2007
134625c.4612G>Ap.Val1538IleDIVS1MissenseN→N (29)SME(Late-onset)NADepienne C.2009
ASDNAKoshimizu E.2013
134725c.4605dupTp.Phe1535fsDIVS1FrameshiftHaploinsufficiencySMENAVerbeek NE.2013
134825c.4615C>Ap.Thr1539ProDIVS1MissenseP/O→N (38)SMENAHattori J.2008
134925c.4628T>Cp.Phe1543SerDIVS1MissenseN→P/O(155)CFE(SIMFE/No FS)Familial(Maternal,asympt),P=1/2Harkin LA.2007
PEFS+ Familial(Maternal)Kim YO.2014
135025c.4629dupTp.Phe1543fsX2DIVS1 FrameshiftHaploinsufficiencySMEINA Zuberi SM.2011
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