By variant position
By protein location
By phenotype
By mutation
By inheritance
By author
Latest mutation
Table legend
SCN1A mutations list 12/38
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 551 | 11 | c.1852delC | p.Arg618AfsX5 | DI-DII | Frameshift | Haploinsufficiency | Ep and/or NDD | NA | Lindy AS.2018 |
| 552 | 11 | c.1853_1857dupGCAAC | p.Ser620AlafsX5 | DI-DII | Frameshift | Haploinsufficiency | SMEB | De novo | Marini C.2007 |
| 553 | 11 | c.1873delA | p.Thr625ProfsX47 | DI-DII | Frameshift | Haploinsufficiency | SMEI | De novo | Depienne C.2009 |
| 554 | 11 | c.1876A>G | p.Ser626Gly | DI-DII | Missense | P/O→N (56) | CGE(FS) | NA | Harkin LA.2007 |
| SME | NA | Depienne C.2009 | |||||||
| SME | NA | Xu X.2014 | |||||||
| SMEB | NA | Lee JS.2017 | |||||||
| 555 | 11 | c.1880G>A | p.Arg627Lys | DI-DII | Missense | P/﹢→P/﹢ (26) | GEFS+ | NA | Cetica V.2017 |
| 556 | 11 | c.1924delC | p.His642ThrfsX30 | DI-DII | Frameshift | Haploinsufficiency | SMEI | NA | Ishii A.2017 |
| 557 | 11 | c.1934_1935delTG | p.Val645GlyfsX30 | DI-DII | Frameshift | Haploinsufficiency | SMEI | De novo | Liu J.2018 |
| SMEI | De novo | Liu J.2018 | |||||||
| SMEI | De novo | Yang X.2017 | |||||||
| 558 | 11 | c.1944T>G | p.Asn648Lys | DI-DII | Missense | P/O→P/﹢ (94) | EE | NA | Zhu X.2017 |
| 559 | 11 | c.1970C>T | p.Pro657Leu | DI-DII | Missense | N→N (98) | SMEI | NA | Xu X.2015 |
| 560 | 11 | c.1985C>A | p.Ser662X | DI-DII | Nonsense | Haploinsufficiency | PEFS+ | De novo | Yu MJ.2010 |
| 561 | 11 | c.2021A>G | p.Asp674Gly | DI-DII | Missense | P/﹣→N (94) | SMEI | De novo | Harkin LA.2007 |
| 562 | IVS11 | c.2044-1G>A | DI-DII | splice acceptor site | ND | SME | De novo | Carvill GL.2014 | |
| 563 | IVS11 | c.2044-5delT | DI-DII | Splice acceptor site | ND | SMEI | NA | Shi XY.2016 | |
| SMEI | NA | Ishii A.2017 | |||||||
| 564 | 12 | c.2052delC | p.Thr685LeufsX5 | DI-DII | Frameshift | Haploinsufficiency | SMEB | NA | Zuberi SM.2011 |
| 565 | 12 | c.2071A>T | p.Lys691X | DI-DII | Nonsense | Haploinsufficiency | SME | NA | Xu X.2014 |
| 566 | 11 | c.2078_2089del12ins2 | p.[Arg693Lys(;)Ser695ThrfsX7] | DI-DII | Frameshift | Haploinsufficiency | SMEI | De novo | Depienne C.2009 |
| 567 | 12 | c.2088_2091delTTTC | p.Ser696SerfsX8 | DI-DII | Frameshift | Haploinsufficiency | SMEI | De novo | Lim BC.2011 |
| 568 | 12 | c.2092C>T | p.His698Tyr | DI-DII | Missense | P/﹢→P/O (83) | SME | NA | Villeneuve N.2014 |
| 569 | 12 | c.2100delC | p.Ser700fsX4 | DI-DII | Frameshift | Haploinsufficiency | SME | NA | Xu X.2014 |
| 570 | 12 | c.2105_2109delACTTT | p.Asp702AlafsX25 | DI-DII | Frameshift | Haploinsufficiency | EE | De novo | de Kovel CG.2016 |
| 571 | 12 | c.2118_2119insAA | p.Pro707AsnfsX9 | DI-DII | Frameshift | Haploinsufficiency | SMEI | De novo | Kearney JA.2006 |
| 572 | 12 | c.2120delC | p.Pro707LeufsX8 | DI-DII | Frameshift | Haploinsufficiency | SMEI | De novo | Ohmori I.2002 |
| 573 | 12 | c.2131C>T | p.Gln711X | DI-DII | Nonsense | Haploinsufficiency | SME | NA | Lee HF.2014 |
| 574 | 12 | c.2133_2134delACinsT | p.Gln711HisfsX4 | DI-DII | Frameshift | Haploinsufficiency | SMEI | De novo | Depienne C.2009 |
| 575 | 12 | c.2134C>T | p.Arg712X | DI-DII | Nonsense | Haploinsufficiency;LOF | SMEI | NA | Sugawara T.2002 |
| SMEI | De novo | Ohmori I.2002 | |||||||
| SMEI | Familial(Maternal,mosaic,asympt),P=1/1 | Depienne C.2009,2010 | |||||||
| SMEI | 2De novo;2NA | Depienne C.2009,2010 | |||||||
| SMEI | 1De novo;1NA | Fukuma G.2004 | |||||||
| SMEI/Unclassified | 2De novo;3NA | Zuberi SM.2011 | |||||||
| SMEI | De novo | Wang JW.2012 | |||||||
| IE | NA | Wang JW.2012 | |||||||
| SMEI | De novo | Wang JW.2012 | |||||||
| SMEI | NA | Wang JW.2012 | |||||||
| SME+AE | NA | Okumura A.2012 | |||||||
| SME | NA | Moehring J.2013 | |||||||
| SME | NA | Lee HF.2014 | |||||||
| SME | NA | Xu X.2014 | |||||||
| Epilepsy and/or NDD | NA | Lindy AS.2018 | |||||||
| 576 | IVS12 | c.2176+1G>A | DI-DII | Splice donor site | ND | NA | NA | L?fgren A.2010(unpublished) | |
| SMEI | NA | Mahdieh N.2018 | |||||||
| 577 | IVS12 | c.2176+2T>A | DI-DII | Splice donor site | ND | SME | De novo | Verbeek NE.2013 | |
| 578 | IVS12 | c.2176+3T>A | DI-DII | Splice donor site | ND | SMEI | NA | Xu X.2015 | |
| 579 | IVS12 | c.2177-6delT | DI-DII | Splice acceptor site | ND | IE | NA | Wang JW.2012 | |
| 580 | IVS12 | c.2177-11dupT | DI-DII | Splice acceptor site | ND | GEFS+ | 2Familial(Paternal&Maternal,asympt) | Mrabet H.2007 | |
| 581 | IVS12 | c.2177-1G>A | DI-DII | Splice acceptor site | ND | SMEI | NA | Ishii A.2017 | |
| 582 | IVS12 | c.2177-1G>T | DI-DII | Splice acceptor site | ND | Ep and/or NDD | NA | Lindy AS.2018 | |
| 583 | 13 | c.2196_2197insCACCCTGT | p.Lys733HisfsX17 | DI-DII | Frameshift | Haploinsufficiency | SMEI | NA | Fujiwara T.2003 |
| 584 | 13 | c.2210G>A | p.Trp737X | DI-DII | Nonsense | Haploinsufficiency | SMEI | NA | Ko A.2018 |
| 585 | 13 | c.2213G>A | p.Trp738X | DI-DII | Nonsense | Haploinsufficiency | SME | NA | Xu X.2014 |
| 586 | 13 | c.2213G>T | p.Trp738Leu | DI-DII | Missense | N→N (61) | SME | NA | Xu X.2014 |
| 587 | 13 | c.2214G>A | p.Trp738X | DI-DII | Nonsense | Haploinsufficiency | SMEI | De novo | Kwong AK.2012 |
| 588 | 13 | c.2214delG | p.Trp738CysfsX9 | DI-DII | Frameshift | Haploinsufficiency | SME | NA | Hattori J.2008 |
| 589 | 13 | c.2240delT | p.Ile747ThrfsX9 | DI-DII | Frameshift | Haploinsufficiency | SMEI | NA | Ishii A.2017 |
| 590 | 13 | c.2243G>A | p.Trp748X | DI-DII | Nonsense | Haploinsufficiency | SMEI | NA | Wang JW.2012 |
| 591 | 13 | c.2273_2276dupAAAC | p.Lys758fsX15 | DI-DII | Frameshift | Haploinsufficiency | SMEB | NA | Lin W.2010 |
| 592 | 13 | c.2259T>G | p.Tyr753X | DI-DII | Nonsense | Haploinsufficiency | SMEI | NA | Do TT.2017 |
| 593 | 13 | c.2261G>A | p.Trp754X | DI-DII | Nonsense | Haploinsufficiency | SMEI | NA | Ishii A.2017 |
| 594 | 13 | c.2261G>T | p.Trp754Leu | DI-DII | Missense | N→N (61) | SMEI | NA | Xu X.2015 |
| 595 | 13 | c.2251delT | p.Ser751LeufsX5 | DI-DII | Frameshift | Haploinsufficiency | NA | De novo | L?fgren A.2010(unpublished) |
| 596 | 13 | c.2264T>G | p.Leu755X | DI-DII | Nonsense | Haploinsufficiency | SMEI | De novo | L?fgren A.2010(unpublished) |
| 597 | 13 | c.2277insAACA | p.His759fsX14 | DI-DII | Frameshift | Haploinsufficiency | SME | De novo | Lin W.2013 |
| 598 | 13 | c.2284A>G | p.Asn762Asp | DI-DII | Missense | P/O→P/﹣(23) | SMEI | Familial(Paternal) | Zuberi SM.2011 |
| 599 | 13 | c.2303C>T | p.Pro768Leu | DIIS1 | Missense | N→N (98) | SMEI | De novo | Sun H.2010 |
| SME | NA | Xu X.2014 | |||||||
| 600 | 13 | c.2303_2306dupGACC | p.Pro768fsX5 | DIIS1 | Frameshift | Haploinsufficiency | SMEI | NA | Sun H.2010 |
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.