By variant position
By protein location
By phenotype
By mutation
By inheritance
By author
Latest mutation
Table legend
SCN1A mutations list 7/38
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 301 | IVS6 | c.965-1G>A | DIS5-S6 | Splice acceptor site | ND | SMEI | NA | Xu X.2015 | |
| Ep and/or NDD | NA | Lindy AS.2018 | |||||||
| 302 | 7 | c.969T>G | p.Tyr323X | DIS5-S6 | Nonsense | Haploinsufficiency | NA | NA | L?fgren A.2010(unpublished) |
| 303 | 7 | c.969T>A | p.Tyr323X | DIS5-S6 | Nonsense | Haploinsufficiency | SMEI | De novo | Mancardi MM.2006 |
| Nonsense | SMEI | De novo | Nicita F.2010 | ||||||
| 304 | 7 | c.970C>A | p.His324Asn | DIS5-S6 | Missense | P/﹢→P/O (68) | SMEI | NA | Ishii A.2017 |
| 305 | 7 | c.971A>C | p.His324Pro | DIS5-S6 | Missense | P/﹢→N (77) | SMEI | maternal,MOSAIC | Yang X.2017 |
| 306 | 7 | c.974A>G | p.Tyr325Cys | DIS5-S6 | Missense | P/O→N (194) | SMEI | De novo | L?fgren A.2010(unpublished) |
| SME | De novo | Liu Y.2013 | |||||||
| 307 | 7 | c.974_976del | p.Tyr325del | DI S5-S6 | In-frame deletion | ND | DS | Mother negtive | Wu YW.2015 |
| 308 | 7 | c.975T>A | p.Tyr325X | DIS5-S6 | Nonsense | Haploinsufficiency | SME | NA | Liu Y.2013 |
| 309 | 7 | c.980T>G | p.Leu327Arg | DIS5-S6 | Missense | N→P/﹢ (102) | SMEI | Both mosaic | de Lange IM.2018 |
| 310 | 6 | c.982dupG | p.Glu328GlyfsX12 | DIS5-S6 | Frameshift | Haploinsufficiency | SMEI | NA | de Lange IM.2018 |
| 311 | 7 | c.985G>T | p.Gly329Cys | DIS5-S6 | Missense | N→N (159) | Ep and/or NDD | NA | Lindy AS.2018 |
| 312 | 7 | c.986G>C | p.Gly329Ala | DIS5-S6 | Missense | N→N (60) | GEFS+ | De novo | Myers KA.2017 |
| 313 | 7 | c.992delT | p.Leu331fsX | DIS5-S6 | Frameshift | Haploinsufficiency | SMEB | De novo | Zuberi SM.2011 |
| SME | NA | Verbeek NE.2013 | |||||||
| 314 | 7 | c.992dupT | p.Leu331PhefsX9 | DIS5-S6 | Frameshift | Haploinsufficiency | SMEI | De novo | Mancardi MM.2006 |
| 315 | 7 | c.995A>G | p.Asp332Gly | DIS5-S6 | Missense | P/﹣→N (94) | Ep and/or NDD | NA | Lindy AS.2018 |
| 316 | 7 | c.1006T>G | p.Cys336Gly | DIS5-S6 | Missense | N→N (159) | EE | De novo | Hamdan FF.2017 |
| 317 | 7 | c.1007G>A | p.Cys336Tyr | DIS5-S6 | Missense | N→P/O (194) | SME | NA | Xu X.2014 |
| 318 | 7 | c.1010G>A | p.Gly337Glu | DIS5-S6 | Missense | N→P/﹣(98) | SMEI | NA | Ishii A.2017 |
| 319 | 7 | c.1019C>T | p.Ser340Phe | DIS5-S6 | Missense | P/O→N (155) | SMEI | NA | Depienne C.2009 |
| 320 | 7 | c.1024G>T | p.Ala342Ser | DIS5-S6 | Missense | N→P/O(99) | SMEI | NA | Xu X.2015 |
| 321 | 7 | c.1025C>T | p.Ala342Val | DIS5-S6 | Missense | N→N (64) | SMEI | De novo | Zuberi SM.2011 |
| SME | NA | Xu X.2014 | |||||||
| 322 | 7 | c.1027G>C | p.Gly343Arg | DIS5-S6 | Missense | N→P/﹢ (125) | SMEI | NA | Ishii A.2017 |
| 323 | 7 | c.1027G>T | p.Gly343Cys | DIS5-S6 | Missense | N→N (159) | SMEI | NA | Ishii A.2017 |
| 324 | 7 | c.1028G>A | p.Gly343Asp | DIS5-S6 | Missense | N→P/﹣(94) | SMEB | NA | Fujiwara T.2003 |
| SME | De novo | Depienne C.2009 | |||||||
| SMEI | NA | Zuberi SM.2011 | |||||||
| 325 | IVS7 | c.1028+1G>T | DIS5-S6 | Splice donor site | ND | SMEI | De novo | Harkin LA.2007 | |
| SMEI | De novo | Depienne C.2009 | |||||||
| SMEI | NA | Harkin LA.2007 | |||||||
| 326 | IVS7 | c.1028+4delA | DIS5-S6 | splice donor site | ND | SMEI | NA | Provenzano G.2009 | |
| 327 | IVS7 | c.1028+1G>A | DIS5-S6 | Splice donor site | ND | Ep | NA | Hesse AN.2018 | |
| 328 | IVS7 | c.1028+5G>A | DIS5-S6 | Splice donor site | ND | GEFS+ | NA | Afawi Z.2016 | |
| 329 | IVS7 | c.1029-1G>A | DIS5-S6 | Splice acceptor site | ND | SMEI | De novo | Ceulemans BP.2004 | |
| 330 | IVS7 | c.1029-2A>G | DIS5-S6 | Splice acceptor site | ND | Ep | De novo | Della Mina E.2015 | |
| 331 | 8 | c.1033delT | p.Cys345ValfsX8 | DIS5-S6 | Frameshift | Haploinsufficiency | SMEI | NA | Arlier Z.2010 |
| 332 | 8 | c.1033T>C | p.Cys345Arg | DIS5-S6 | Missense | N→P/﹢(180) | SMEI | De novo | Depienne C.2009 |
| 333 | 8 | c.1034G>A | p.Cys345Tyr | DIS5-S6 | Missense | N→P/O (194) | SMEI | NA | Martin P.2010 |
| 334 | 8 | c.1035T>A | p.Cys345X | DIS5-S6 | Nonsense | Haploinsufficiency | SMEI | De novo | Zuberi SM.2011 |
| 335 | 8 | c.1035T>G | p.Cys345Trp | DIS5-S6 | Missense | N→N (215) | SMEI | De novo | Zuberi SM.2011 |
| 336 | 8 | c.1042G>T | p.Gly348X | DIS5-S6 | Nonsense | Haploinsufficiency | SMEI | De novo | Mancardi MM.2006 |
| 337 | 8 | c.1046A>G | p.Tyr349Cys | DIS5-S6 | Missense | P/O→N (194) | SME | Familial(Paternal, FS+),P=2/2 | Xu XJ.2012b |
| 338 | 8 | c.1048_1049delAT | p.Met350ValfsX6 | DIS5-S6 | Frameshift | Haploinsufficiency | SMEI | De novo | Harkin LA.2007 |
| 339 | 8 | c.1048A>G | p.Met350Val | DIS5-S6 | Missense | N→N (21) | SMEI | NA | Xu X.2015 |
| 340 | 8 | c.1051T>C | p.Cys351Arg | DIS5-S6 | Missense | N→P/﹢ (180) | SMEI | NA | Doccini S.2015 |
| 341 | 8 | c.1053T>G | p.Cys351Trp | DIS5-S6 | Missense | N→N (215) | SMEI | De novo | Zuberi SM.2011 |
| 342 | 8 | c.1053T>A | p.Cys351X | DIS5-S6 | Nonsense | Haploinsufficiency | SMEI | NA | Kwong AK.2012 |
| 343 | 8 | c.1053dupT | p.Val352CysfsX5 | DIS5-S6 | Frameshift | Haploinsufficiency | Ep and/or NDD | NA | Lindy AS.2018 |
| 344 | 8 | c.1055_1056dupTG | p.Lys353fsX | DIS5-S6 | Frameshift | Haploinsufficiency | SMEI | De novo | Zuberi SM.2011 |
| 345 | 8 | c.1055_1056delTG | p.Val352GlufsX4 | DIS5-S6 | Frameshift | Haploinsufficiency | SMEI | De novo | Harkin LA.2007 |
| SME | NA | Xu X.2014 | |||||||
| 346 | 8 | c.1064G>A | p.Gly355Asp | DIS5-S6 | Missense | N→P/﹣(94) | SMEI | De novo | Depienne C.2009 |
| 347 | 8 | c.1066A>G | p.Arg356Gly | DIS5-S6 | Missense | P/﹢→N (125) | SMEB | Familial | Marini C.2007 |
| 348 | 8 | c.1066A>T | p.Arg356X | DIS5-S6 | Nonsense | Haploinsufficiency | SMEI | NA | Ishii A.2017 |
| 349 | 8 | c.1069A>T | p.Asn357Tyr | DIS5-S6 | Missense | P/O→P/O (143) | SMEI | NA | Cho MJ.2018 |
| 350 | 8 | c.1070A>T | p.Asn357Ile | DIS5-S6 | Missense | P/O→N (149) | SMEI | De novo | Depienne C.2009 |
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.