Inherited mutation list

NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
1c.17T>Cp.Leu6Pro(N-terminal)MissenseGEFS+No symptom(Paternal) 21/2Cetica V.2017
2c.80G>Cp.Arg27Thr(N-terminal)MissenseGEFS+No symptom(paternal) 21/2Nicita F.2010
3c.133G>Ap.Asp45Asn(N-terminal)MissenseEA with FS+FS+(Paternal) 2 Carvill GL.2013
4c.135C>Gp.Asp45Glu(N-terminal)MissenseSMEINo symptom(paternal) 21/2Zhou P.2018
5c.140delAp.Asn47MetfsX45(N-terminal)FrameshiftEp and NDDmosaic pathogenic variantmosaic (26%) Stosser MB.2018
6c.172G>Ap.Gly58Arg(N-terminal)MissenseFS+Migraine (maternal line) 21/2Della Mina E.2015
7c.182T>Cp.Leu61Pro(N-terminal)MissenseSMEISudden unexplained death in childhood (SUDC) mosaic (25%)22/3Halvorsen M.2016
8c.187T>Cp.Phe63Leu(N-terminal)MissenseSMEINo symptom(PaternaL) 21/2Nicita F.2010
9c.203T>Cp.Ile68Thr(N-terminal)MissenseSMEBNA (Maternal) Zuberi SM.2011
10c.265-3C>TND((N-terminal))Splice acceptor siteGEFS+NA (Maternal) Zuberi SM.2011
11c.269T>Cp.Phe90Ser(N-terminal)MissenseSMEIFS(paternal)mosaic (8.6%)21/2Xu X.2015
12c.302G>Ap.Arg101Gln(N-terminal)MissenseSMEIFS+(Maternal)Mosaic 23/3Sun H.2010
PEFS+FS+(Maternal)Mosaic 23/3Xu XJ.2012a
13c.307A>Gp.Ser103Gly(N-terminal)MissenseSMEINA(Paternal) Ebrahimi A.2010
14c.317C>Tp.Ser106Phe(N-terminal)MissenseFE(MCDs)Unclassified EP 22/2Barba C.2014
15c.332T>Ap.Leu111X(N-terminal)NonsenseEp and NDDNo symptom(paternal)mosaic (20.2%) 1/2Stosser MB.2018
16c.371T>Ap.Ile124Asn(DIS1)MissenseSMEIIGE(Maternal)Mosaic(~25%)21/1Depienne C.2009
17c.412_413delATp.Ile138PhefsX11(DIS1)FrameshiftSMEINA (Paternal) Zuberi SM.2011
18c.434T>Cp.Met145Thr(DIS1)MissensePEFS+FS(Maternal) 5/5Colosimo E.2007
19c.541G>Tp.Glu181X(DIS2-S3)NonsenseGEFS+NA Orrico A.2009
20c.563A>Tp.Asp188Val(DIS2-S3)MissenseGEFS+FS+(Paternal) 8/9Wallace RH.2001
21c.568T>Cp.Trp190Arg W190R W190R(DIS3)MissenseSMEINo symptom(Maternal) 21/2Xu XJ.2012b
22c.571A>Tp.Asn191Tyr(DIS3)MissenseSMEIIGE(Paternal)Mosaic(~23%)21/1Depienne C.2010
23c.577C>Tp.Leu193Phe(DIS3)MissenseGEFS+GEFS+(Paternal) 49/9Cui XK.2011
24c.580G>Ap.Asp194Asn(DIS3)MissenseSMEIGEFS+(Paternal)Mosaic(30~35%)21/1Azmanov DN.2010
25c.580G>Ap.Asp194Asn(DIS3)MissenseEpMaternal Miao P.2018
26c.602+1G>AND(DIS3)Splice donor siteSMEIGEFS+(Paternal)Mosaic(~28%)22/2Marini C.2007
SMEINo symptom(Maternal)Mosaic(~25%)22/3Depienne C.2010
27c.652T>Cp.Phe218Leu(DIS4)MissensePEFS+GEFS+(Paternal&Maternal) 25/5Livingston JH.2009
GEFS+GEFS+(Maternal) Catarino CB.2011
28c.715G>Ap.Ala239Thr(DIS4-S5)MissenseSMEBFS+(Paternal) 2/2Harkin LA.2007
29c.[730G>T(;) 735G>T(;) 736A>T]p.[Val244Leu(;)Lys245Asn(;)Lys246X](DIS4-S5)Compound mutationSMEINo symptom(Maternal)Mosaic(~15%)22/2Morimoto M.2006
30c.787C>Gp.Leu263Val(DIS5)MissenseFHM+EPNA 25/5Barros J.2014
FHM+EPFHM+EP(Paternal) 25/5Castro MJ.2008
31c.865G>Tp.Glu289X(DIS5-S6)NonsenseSMEIPartial epilepsy(Maternal) 22/2Nabbout R.2003
32c.890C>Tp.Thr297Ile(DIS5-S6)MissenseSMEINo symptom(Maternal) 22/2Nabbout R.2003
33c.940T>Cp.Trp314Arg(DIS5-S6)MissenseMAENA (Maternal) Zuberi SM.2011
34c.965-2A>CND(DIS5-S6)Splice acceptor siteSMEINo symptom(Paternal)Mosaic(5~10%)22/2Depienne C.2006
35c.971A>Cp.His324Pro(DIS5-S6)MissenseSMEINo symptom(maternal)mosaic (25.67%) Yang X.2017
36c.980T>Gp.Leu327Arg(DIS5-S6)MissenseSMEINAboth mosaic (34% and 12%) de Lange IM.2018
37c.1046A>Gp.Tyr349Cys(DIS5-S6)MissenseSMEIFS+(Paternal) 22/2Xu XJ.2012b
38c.1066A>Gp.Arg356Gly(DIS5-S6)MissenseSMEBNA Marini C.2007
39c.1118delTp.Leu373Cysfsx6(DIS5-S6)FrameshiftSMEIFS+(Paternal)Mosaic22/2Xu XJ.2012a
40c.1130G>Ap.Arg377Gln(DIS5-S6)MissenseGEFS+NA (Maternal) Zucca C.2008
41c.1162T>Cp.Tyr388His(DIS5-S6)MissenseSMEIGEFS+(Paternal) 10/10Mahoney K.2009
42c.1181C>Ap.Ala394Asp(DIS5-S6)MissenseGEFS+FS(maternal uncle) Myers KA.2017
43c.1196A>Tp.Tyr399Phe(DIS5-S6)MissenseGEFS+FS(paternal) 22/2Gauthier AC.2017
44c.1198A>Gp.Met400Val(DIS6)MissenseSMEINA (Biparental) Zuberi SM.2011
45c.1204T>Cp.Phe402Leu(DIS6)MissenseEp and NDDNAmosaic (24.7%) Stosser MB.2018
46c.1209dupTp.Val404CysfsX46(DIS6)FrameshiftSMEINo symptom 1,the sibling carried the heterozygous variant.2/2Mahdieh N.2018
47c.1226T>Gp.Leu409Trp(DIS6)MissenseSMEINA(Maternal) Wang JW.2012
48c.1234T>Ap.Phe412Ile(DIS6)MissenseSMEBNo symptom(Paternal) Ebrahimi A.2010
49c.1294G>Tp.Ala432Ser(DI-DII)MissenseSMEIFamily History N/A Usluer S.2016
50c.1377+1G>AND(DI-DII)Splice donor siteSMEIIGE(Paternal)Mosaic (~43%)21/1Depienne C.2010
51c.1378-1G>AND(DI-DII)Splice acceptor siteSMEINo symptom(Maternal) 21/2Harkin LA.2007
52c.1378-1G>AND(DI-DII)Splice acceptor siteSMEINo symptom(maternal) Mahdieh N.2018
53c.1458_1465delCTCTAAGTp.Ser487GlufsX6(DI-DII)In-frame deletionSMEINo symptom(paternal)mosaic2( two affected siblings)2/2Sharkia .2016
54c.1462_1466delAAGTTp.Lys488GlufsX6(DI-DII)In-frame deletionSMEImaternalmosaic(32.81%) Yang X.2017
55c.1537delGp.Glu513LysfsX31(DI-DII)FrameshiftSMEISMEB(Paternal)Mosaic21/1Verbeek NE.2011
56c.1624C>Tp.Arg542X(DI-DII)NonsenseSMEINo symptom(Maternal)Mosaic(~25%)22/2Depienne C.2006
57c.1625G>Ap.Arg542Gln(DI-DII)MissenseGEFS+IGE(Paternal) 22/2Combi R.2009
GEFS+NA Orrico A.2009
58c.1696C>Tp.Pro566Ser(DI-DII)MissenseSMEISUDEP Usluer S.2016
59c.1709G>Tp.Ser570Ile(DI-DII)MissenseGEFS+FS 26/11Cetica V.2017
60c.1738C>Tp.Arg580X(DI-DII)NonsenseSMEINo symptom(Maternal)Mosaic(~0.02%)22/2Depienne C.2010
61c.1850_1851delGAp.Arg617ThrfsX10(DI-DII)FrameshiftSMEIpaternalmosaic(13.59%) Yang X.2017
62c.1852C>Tp.Arg618Cys((DI-DII)MissensePEFS+No symptom (Biparental) 1, two consanguineous pedigrees2/2Brunklaus A.2015
63c.2134C>Tp.Arg712X(DI-DII)NonsenseSMEINo symptom(Maternal)Mosaic(~23%)21/1Depienne C.2010
64c.2177-11dupTND(DI-DII)Splice acceptor siteGEFS+No symptom (Paternal&Maternal) 2 Mrabet H.2007
65c.2284A>G