By variant position
By protein location
By phenotype
By mutation
By inheritance
By author
Latest mutation
Table legend
SCN1A mutations list 9/38
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 401 | IVS8 | c.1171-1G>T | DIS5-S6 | Splice acceptor site | ND | NA | De novo | Depienne C.2009 | |
| 402 | IVS8 | c.1171-2A>G | DIS5-S6 | splice acceptor site | ND | SME | NA | Villeneuve N.2014 | |
| 403 | 9 | c.1171A>C | p.Thr391Pro | DIS5-S6 | Missense | P/O→N (38) | SMEI | De novo | Reyes IS.2011 |
| 404 | IVS8 | c.1171-1G>A | DIS5-S6 | Splice acceptor site | ND | SMEI | NA | Cetica V.2017 | |
| 405 | 9 | c.1176dupA | p.Arg393ThrfsX57 | DIS5-S6 | Frameshift | Haploinsufficiency | SMEI | NA | Zuberi SM.2011 |
| 406 | 9 | c.1176A>T | p.Leu392Phe | DIS5-S6 | Missense | N→N (22) | SMEI | NA | Ishii A.2017 |
| 407 | 9 | c.1177C>T | p.Arg393Cys | DIS5-S6 | Missense | P/﹢→N (180) | SMEI | De novo | Mancardi MM.2006 |
| MAE(FS) | De novo | Harkin LA.2007 | |||||||
| SMEI | De novo | Marini C.2007 | |||||||
| SMEI | De novo | Zuberi SM.2011 | |||||||
| SMEI | NA | Lim BC.2011 | |||||||
| SMEI | De novo | Kwong AK.2012 | |||||||
| LGS | De novo | Allen AS.2013 | |||||||
| SME | NA | Lee HF.2014 | |||||||
| SMEB | NA | Villeneuve N.2014 | |||||||
| Epilepsy and/or NDD | NA | Lindy AS.2018 | |||||||
| 408 | 9 | c.1177C>A | p.Arg393Ser | DIS5-S6 | Missense | P/﹢→P/O (110) | SMEI | De novo | Mancardi MM.2006 |
| MAE | De novo | Harkin LA.2007 | |||||||
| SMEI | NA | Marini C.2007 | |||||||
| SMEI | De novo | Depienne C.2009 | |||||||
| 409 | 9 | c.1178G>A | p.Arg393His | DIS5-S6 | Missense | P/﹢→P/﹢(29); LOF | SMEI | De novo | Claes L.2003 |
| SMEI | De novo | Marini C.2007 | |||||||
| SMEI | De novo | Sun H.2010 | |||||||
| SMEI | De novo | Zuberi SM.2011 | |||||||
| IE | NA | Wang JW.2012 | |||||||
| SMEB | NA | Wang JW.2012 | |||||||
| SMEI | NA | Lemke JR.2012 | |||||||
| SMEI | NA | Rilstone JJ.2012 | |||||||
| SME | NA | Xu X.2014 | |||||||
| SME | De novo | Djemie T.2016 | |||||||
| SMEI | NA | Haginoya K.2018 | |||||||
| Epilepsy and/or NDD | NA | Lindy AS.2018 | |||||||
| 410 | 9 | c.1178G>T | p.Arg393Leu | DIS5-S6 | Missense | P/﹢→N (102) | SMEI | NA | Cetica V.2017 |
| 411 | 9 | c.1181C>A | p.Ala394Asp | DIS5-S6 | Missense | N→P/﹣(126) | GEFS+ | Maternal uncle FS | Myers KA.2017 |
| 412 | 9 | c.1182_1183insA | p.Ala395SerfsX55 | DIS5-S6 | Frameshift | Haploinsufficiency | SMEI | NA | Xu X.2015 |
| 413 | 9 | c.1183G>C | p.Ala395Pro | DIS5-S6 | Missense | N→N (27) | CGE(FS) | De novo | Harkin LA.2007 |
| 414 | 9 | c.1183_1184delGCinsA | p.Ala395MetfsX6 | DIS5-S6 | Frameshift | Haploinsufficiency | SMEI | De novo | Sun H.2010 |
| 415 | 9 | c.1187G>A | p.Gly396Glu | DIS5 | Missense | N→P/﹣(98) | SMEI | De novo | Lim BC.2011 |
| 416 | 9 | c.1192delA | p.Thr398ArgfsX3 | DIS5-S6 | Frameshift | Haploinsufficiency | Ep and/or NDD | NA | Lindy AS.2018 |
| 417 | 9 | c.1195T>G | p.Tyr399Asp | DIS5-S6 | Missense | P/O→P/﹣(160) | Ep and/or NDD | NA | Lindy AS.2018 |
| 418 | 9 | c.1196A>T | p.Tyr399Phe | DIS5-S6 | Missense | P/O→N (22) | GEFS+ | simple febrile seizures in his father | Gauthier AC.2017 |
| 419 | 9 | c.1197C>A | p.Tyr399X | DIS5-S6 | Nonsense | Haploinsufficiency | SMEI | De novo | Harkin LA.2007 |
| 420 | 9 | c.1197_1198delCA | p.Met400AspfsX49 | DIS5-S6 | Frameshift | Haploinsufficiency | SMEI | NA | Xu X.2015 |
| 421 | 9 | c.1199_1201delTGA | p.Met400del | DIS6 | In-frame deletion | ND | SMEI | De novo | Ceulemans BP.2004 |
| 422 | 9 | c.1200_1202delGAT | p.Met400del | DIS6 | In-frame deletion | ND | SME | De novo | Depienne C.2009 |
| SMEB | De novo | Wang JW.2012 | |||||||
| 423 | 9 | c.1199T>A | p.Met400Lys | DIS6 | Missense | N→P/﹢ (95) | SMEI | NA | Xu X.2015 |
| 424 | 9 | c.1207T>C | p.Phe403Leu | DIS6 | Missense | N→N (22) | SMEI | De novo | Harkin LA.2007 |
| 425 | 9 | c.1204T>C | p.Phe402Leu | DIS6 | Missense | N→N (22) | EP and NDD | MOSAIC | Stosser MB.2018 |
| Ep and/or NDD | NA | Lindy AS.2018 | |||||||
| 426 | 9 | c.1207T>G | p.Phe403Val | DIS6 | Missense | N→N (50) | SMEI | NA | Zuberi SM.2011 |
| 427 | 9 | c.1208T>C | p.Phe403Ser | DIS6 | Missense | N→P/O (155) | SMEI | De novo | L?fgren A.2010(unpublished) |
| 428 | 9 | c.1216G>T | p.Val406Phe | DIS6 | Missense | N→N (50) | SMEI | NA | Zuberi SM.2011 |
| 429 | 9 | c.1209dupT | p.Val404CysfsX46 | DIS6 | Frameshift | Haploinsufficiency | SMEI | NA | Ream MA.2014 |
| SMEI | the sibling carried the heterozygous variant. | Mahdieh N.2018 | |||||||
| 430 | 9 | c.1222T>C | p.Phe408Leu | DIS6 | Missense | N→N (22) | Epilepsy,idiopathic | NA | Klassen T.2011 |
| 431 | 9 | c.1226T>G | p.Leu409Trp | DIS6 | Missense | N→N (61) | SMEI | Familial(Maternal) | Wang JW.2012 |
| 432 | 9 | c.1223_1226delTCTT | p.Phe408TrpfsX6 | DIS6 | Frameshift | Haploinsufficiency | SMEI | NA | Cetica V.2017 |
| 433 | 9 | c.1234T>A | p.Phe412Ile | DIS6 | Missense | N→N (21) | SMEB | Familial(Paternal,asympt) | Ebrahimi A.2010 |
| GEFS+ | NA | Tonekaboni SH.2013 | |||||||
| 434 | 9 | c.1237T>A | p.Tyr413Asn | DIS6 | Missense | P/O→P/O (143) | SMEI | De novo | Harkin LA.2007 |
| SMEI | NA | Mulley JC.2013 | |||||||
| 435 | 9 | c.[1198A > G]; [1198A > G] | p.[(Met400Val)]; [(Met400Val)] | DIS6 | Missense | N→N (21) | GEFS+(proband DS ) | Familial(Biparental) | Brunklaus A.2015 |
| 436 | 9 | c.1244T>A | p.Ile415Lys | DIS6 | Missense | N→P/﹢(102) | Ep (early-onset) | De novo | Stanek D.2018 |
| 437 | 9 | c.1246A>T | p.Asn416Tyr | DIS6 | Missense | c.1246A>T | SMEI | NA | L?fgren A.2010(unpublished) |
| 438 | 9 | c.1247delA | p.Asn416IlefsX2 | DIS6 | Frameshift | Haploinsufficiency | SMEI | NA | Zuberi SM.2011 |
| 439 | 9 | c.1247_1248insGTAGA | p.Asn416LysfsX2 | DIS6 | Frameshift | Haploinsufficiency | Ep and/or NDD | NA | Lindy AS.2018 |
| 440 | 9 | c.1247A>T | p.Asn416Ile | DIS6 | Missense | P/O→N (149) | SMEI | NA | Zhou P.2018 |
| 441 | 9 | c.1250delT | p.Leu417X | DIS6 | Nonsense | Haploinsufficiency | SMEI | NA | Ishii A.2017 |
| 442 | 9 | c.1258_1261delGCTG | p.Ala420TrpfsX27 | DIS6 | Frameshift | Haploinsufficiency | SMEI | NA | Zuberi SM.2011 |
| 443 | 9 | c.1259C>T | p.Ala420Val | DIS6 | Missense | N→N (64) | NA | De novo | L?fgren A.2010(unpublished) |
| GEFS+ | NA | Xu X.2015 | |||||||
| 444 | 9 | c.1259C>A | p.Ala420Asp | DIS6 | Missense | N→P/﹣(126) | Ep | NA | Butler KM.2017 |
| 445 | 9 | c.1261G>A | p.Val421Met | DIS6 | Missense | N→N (21) | SMEI | NA | Trujillano D.2017 |
| 446 | 9 | c.1264G>A | p.Val422Met | DIS6 | Missense | N→N (21) | SMEI | De novo | Kwong AK.2012 |
| SMEI | NA | Butler KM.2017 | |||||||
| 447 | 9 | c.1264G>T | p.Val422Leu | DIS6 | Missense | N→N (32) | EE | De novo | Ohashi T.2014 |
| 448 | 9 | c.1265T>A | p.Val422Glu | DIS6 | Missense | N→P/﹣(121) | CGE(No FS) | De novo | Harkin LA.2007 |
| 449 | 9 | c.1265T>C | p.Val422Ala | DIS6 | Missense | N→N (64) | SMEI | NA | Xu X.2015 |
| 450 | 9 | c.1276T>A | p.Tyr426Asn | DI-DII | Missense | P/O→P/O (143); pLOF | SMEI | De novo | Nabbout R.2003 |
| SMEI | NA | Ohmori I.2006 | |||||||
| SMEI | NA | Allen NM.2016 |
Copyright ©2014 Institute of Neuroscience and The Second Affiliated Hospital of Guangzhou Medical University
Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China
Collaborative Innovation Center for Neurogenetics and Channelopathies, Guangzhou 510260, China.