By variant position
By protein location
By phenotype
By mutation
By inheritance
By author
Latest mutation
Table legend
SCN1A mutations list 10/38
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 451 | 9 | c.1277A>G | p.Tyr426Cys | DI-DII | Missense | P/O→N (194) | NA | De novo | Depienne C.2009 |
| SMEI | NA | Wang JW.2012 | |||||||
| SMEI | NA | Wang JW.2012 | |||||||
| Epilepsy and/or NDD | NA | Lindy AS.2018 | |||||||
| 452 | 9 | c.1278C>A | p.Tyr426X | DI-DII | Nonsense | Haploinsufficiency | Ep | NA | Hesse AN.2018 |
| 453 | 9 | c.1279G>A | p.Glu427Lys | DI-DII | Missense | P/﹣→P/﹢ (56) | SMEI | NA | Cho MJ.2018 |
| 454 | 9 | c.1291C>T | p.Glu431X | DI-DII | Nonsense | Haploinsufficiency | SMEI | NA | Zuberi SM.2011 |
| 455 | 9 | c.1294G>T | p.Ala432Ser | DI-DII | Missense | N→P/O(99) | SMEI | Family History NA | Usluer S.2016 |
| 456 | 9 | c.1299dupC | p.Leu433fsX16 | DI-DII | Frameshift | Haploinsufficiency | MAE | De novo | Ebach K.2005 |
| 457 | 9 | c.1301delT | p.Leu434TrpfsX14 | DI-DII | Frameshift | Haploinsufficiency | SMEI | NA | Xu X.2015 |
| 458 | 9 | c.1303G>T | p.Glu435X | DI-DII | Nonsense | Haploinsufficiency | SMEI | NA | Fukuma G.2004 |
| SMEI | De novo | Wang JW.2012 | |||||||
| 459 | 9 | c.1312G>T | p.Glu438X | DI-DII | Nonsense | Haploinsufficiency | NA | De novo | L?fgren A.2010(unpublished) |
| 460 | 9 | c.1315C>T | p.Gln439X | DI-DII | Nonsense | Haploinsufficiency | NA | NA | Depienne C.2009 |
| SMEI | De novo | Wang JW.2012 | |||||||
| 461 | 9 | c.1322_1323delAG | p.Glu441GlyfsX8 | DI-DII | Frameshift | Haploinsufficiency | SMEI | NA | L?fgren A.2010(unpublished) |
| 462 | 9 | c.1327G>T | p.Glu443X | DI-DII | Nonsense | Haploinsufficiency | SMEI | De novo | Liu J.2018 |
| 463 | 9 | c.1333C>T | p.Gln445X | DI-DII | Nonsense | Haploinsufficiency | SMEI | NA | Surovy M.2016 |
| 464 | 9 | c.1342_1352delATTGAACAGCT | p.Ile448X | DI-DII | Frameshift | Haploinsufficiency | SMEI | De novo | Wallace RH.2003 |
| 465 | 9 | c.1345G>T | p.Glu449X | DI-DII | Nonsense | Haploinsufficiency | SMEI | NA | Xu X.2015 |
| 466 | 9 | c.1347delA | p.Glu449AspfsX41 | DI-DII | Frameshift | Haploinsufficiency | Ep and/or NDD | NA | Lindy AS.2018 |
| 467 | 9 | c.1348C>T | p.Q450X | DI-DII | Nonsense | Haploinsufficiency | SMEI | De novo | Depienne C.2009 |
| SMEI | De novo | Kwong AK.2012 | |||||||
| EE | De novo | Mercimek-Mahmutoglu S.2015 | |||||||
| Epilepsy and/or NDD | NA | Lindy AS.2018 | |||||||
| 468 | 9 | c.1366G>T | p.Glu456X | DI-DII | Nonsense | Haploinsufficiency | SMEI | De novo | Depienne C.2009 |
| 469 | 9 | c.1348_1349delCAinsG | p.Q450GfsX10 | DI-DII | Frameshift | Haploinsufficiency | SMEI | De novo | Orrico A.2009 |
| 470 | 9 | c.1376A>G | p.Gln459Arg | DI-DII | Missense | P/﹣→P/﹢ (43) | SMEI and GEFS+ | De novo | Moller RS.2016 |
| 471 | IVS9 | c.1377+1G>A | DI-DII | Splice donor site | ND | SMEI | Familial(Paternal,mosaic,IGE),P=1/1 | Depienne C.2009 | |
| SMEB | NA | Villeneuve N.2014 | |||||||
| 472 | IVS9 | c.1378-1G>A | DI-DII | Splice acceptor site | ND | SMEI | Familial(Maternal,asympt),P=1/2 | Harkin LA.2007 | |
| SMEI | Familial.Maternal) | Mahdieh N.2018 | |||||||
| 473 | 10 | c.1378C>T | p.Gln460X | DI-DII | Nonsense | Haploinsufficiency | SMEB | NA | Zuberi SM.2011 |
| SMEI | NA | L?fgren A.2010(unpublished) | |||||||
| Epilepsy and/or NDD | NA | Lindy AS.2018 | |||||||
| 474 | 10 | c.1408dupT | p.Ser470PhefsX17 | DI-DII | Frameshift | Haploinsufficiency | SMEI | De novo | Depienne C.2009 |
| 475 | 10 | c.1410_1411delCA | p.Ser470fsX15 | DI-DII | Frameshift | Haploinsufficiency | SMEI | De novo | Sun H.2010 |
| 476 | 10 | c.1430delG | p.Gly477AlafsX13 | DI-DII | Frameshift | Haploinsufficiency | Ep and/or NDD | NA | Lindy AS.2018 |
| 477 | 10 | c.1442_1445delACAG | p.Asp481AlafsX8 | DI-DII | Frameshift | Haploinsufficiency | SMEI | NA | Xu X.2015 |
| 478 | 10 | c.1458_1465delCTCTAAGT | p.Ser487GlufsX6 | DI-DII | Frameshift | Haploinsufficiency | SMEI | Parental mosaicism.2/2 | Sharkia R.2016 |
| 479 | 10 | c.1462_1466delAAGTT | p.Lys488GlufsX6 | DI-DII | Frameshift | Haploinsufficiency | SMEI | maternal | Yang X.2017 |
| 480 | 10 | c.1492A>T | p.Arg498X | DI-DII | Nonsense | Haploinsufficiency | SMEI | De novo | Depienne C.2009 |
| 481 | 10 | c.1497_1539insGAGGA TGAATTCCAAAAA | p.Arg500GlufsX10 | DI-DII | Frameshift | Haploinsufficiency | SMEI | De novo | Wang JW.2012 |
| 482 | 10 | c.1498_1538del | p.Arg500GlufsX | DI-DII | Frameshift | Haploinsufficiency | SMEI | De novo | Wang JW.2012 |
| 483 | 10 | c.1498C>T | p.Arg500Trp | DI-DII | Missense | P/﹢→N (101) | NA | NA | L?fgren A.2010(unpublished) |
| 484 | 10 | c.1499G>A | p.Arg500Gln | DI-DII | Missense | P/﹢→P/﹣ (43) | SMEI | NA | Zhou P.2018 |
| 485 | 10 | c.1502delG | p.Arg501fsX43 | DI-DII | Frameshift | Haploinsufficiency | SMEB | De novo | Ohmori I.2002 |
| 486 | 10 | c.1511_1515delGAAA | p.Arg504ThrfsX12 | DI-DII | Frameshift | Haploinsufficiency | SME | NA | Villeneuve N.2014 |
| 487 | 10 | c.1513A>T | p.Lys505X | DI-DII | Nonsense | Haploinsufficiency | Pediatric refractory epilepsy | De novo | Liu J.2018 |
| SMEI | De novo | Liu J.2018 | |||||||
| 488 | 10 | c.1516C>T | p.Gln506X | DI-DII | Nonsense | Haploinsufficiency | SMEI | NA | Cantar |
| SME | |||||||||
| 489 | 10 | c.1518_1522delGAAAG | p.Lys507AlafsX9 | DI-DII | Frameshift | Haploinsufficiency | Ep and/or NDD | NA | Lindy AS.2018 |
| 490 | 10 | c.1532_1533delGTinsA | p.Glu511fsX543 | DI-DII | Frameshift | Haploinsufficiency | SMEI | NA | Wang JW.2012 |
| 491 | 10 | c.1525C>T | p.Gln509X | DI-DII | Nonsense | Haploinsufficiency | Epilepsy, early-onset | De novo | Stanek D.2018 |
| 492 | 10 | c.1520_1523delAAGA | p.Lys507SerfsX36 | DI-DII | Frameshift | Haploinsufficiency | SME | NA | Villeneuve N.2014 |
| 493 | 10 | c.1537delG | p.Glu513LysfsX31 | DI-DII | Frameshift | Haploinsufficiency | SMEI | Familial(Paternal,mosaic,SMEB),P=1/1 | Verbeek NE.2011 |
| 494 | 10 | c.1537G>T | p.Glu513X | DI-DII | Nonsense | Haploinsufficiency | SMEI | NA | Depienne C.2009 |
| 495 | 10 | c.1537dupG | p.Glu513GlyfsX5 | DI-DII | Frameshift | Haploinsufficiency | Ep and/or NDD | NA | Lindy AS.2018 |
| 496 | 10 | c.1570G>T | p.Glu524X | DI-DII | Nonsense | Haploinsufficiency | Ep and/or NDD | NA | Lindy AS.2018 |
| 497 | 10 | c.1574C>T | p.Ser525Phe | DI-DII | Missense | P/O→N (155) | SMEI | De novo | Depienne C.2009 |
| 498 | 10 | c.1585delA | p.Ile529SerfsX15 | DI-DII | Frameshift | Haploinsufficiency | SMEI | NA | Ishii A.2017 |
| 499 | 10 | c.1585dupA | p.lle529AsnfsX11 | DI-DII | Frameshift | Haploinsufficiency | SMEI | NA | Cetica V.2017 |
| 500 | 10 | c.1588dupA | p.Arg529fsX9 | DI-DII | Frameshift | Haploinsufficiency | SMEI | NA | Hino-Fukuyo N.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.