By variant position
By protein location
By phenotype
By mutation
By inheritance
By author
Latest mutation
Table legend
SCN1A mutations list 28/38
| Number | Exon/Intron | Nucleotide change | Protein change | Location | Mutation type | Consequences | Phenotype | Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1351 | 25 | c.4630G>C | p.Asp1544His | DIVS1 | Missense | P/﹣→P/﹢ (81) | Ep and/or NDD | NA | Lindy AS.2018 |
| 1352 | 25 | c.4631A>G | p.Asp1544Gly | DIVS1 | Missense | P/﹣→N (94) | SMEI | De novo | Zuberi SM.2011 |
| 1353 | 25 | c.4631A>C | p.Asp1544Ala | DIVS1 | Missense | P/﹣→N (126) | SMEI | De novo | Depienne C.2009 |
| 1354 | 25 | c.4633A>G | p.Ile1545Val | DIVS1 | Missense | N→N (29) | SMEI | De novo | Harkin LA.2007 |
| SMEI | De novo | Wang JW.2012 | |||||||
| SMEI | NA | Cetica V.2017 | |||||||
| 1355 | 25 | c.4634T>G | p.Ile1545Arg | DIVS1 | Missense | N→P/﹢(97) | SMEI | De novo | L?fgren A.2010(unpublished) |
| 1356 | 25 | c.4655G>A | p.Cys1552Tyr | DIV S1 | Missense | N→P/O (194) | DS | Mother negtive | Wu YW.2015 |
| 1357 | 25 | c.4643T>A | p.Met1548Lys | DIVS1 | Missense | N→P/﹢ (95) | SMEI | NA | Cetica V.2017 |
| 1358 | 25 | c.4636delA | p.Ser1546fsX1548 | DIVS1 | Frameshift | Haploinsufficiency | IE | NA | Wang JW.2012 |
| 1359 | 25 | c.4657_4668del11 | p.Leu1553HisfsX8 | DIVS1 | Frameshift | Haploinsufficiency | SMEI | De novo | Zuberi SM.2011 |
| 1360 | 25 | c.4658_4661delTTAAinsACAT | p.Leu1553_Asn1554delinsHisIle | DIVS1 | In-frame deletion/Insertion | ND | SMEI | NA | Cetica V.2017 |
| 1361 | 25 | c.4662delC | p.Asn1554LysfsX4 | DIVS1 | Frameshift | Haploinsufficiency | SMEI | De novo | Lim BC.2011 |
| 1362 | 25 | c.4664T>G | p.Met1555Arg | DIVS1 | Missense | N→P/﹢(91) | SMEI | De novo | Wang JW.2012 |
| 1363 | 25 | c.4671_4673delAAT | p.Met1558del | DIVS1 | In-frame deletion | ND | SMEI | NA | Fukuma G.2004 |
| IE | NA | Wang JW.2012 | |||||||
| 1364 | 25 | c.4673_4684del | p.Met1558_Glu1561del | DIVS1-S2 | In-frame deletion | ND | NA | NA | L?fgren A.2010(unpublished) |
| 1365 | 25 | c.4674G>A | p.Met1558Ile | DIVS1 | Missense | N→N (10) | Ep and/or NDD | NA | Lindy AS.2018 |
| 1366 | 25 | c.4675_4677del | p.Met1559del | DIVS1 | In-frame deletion | ND | NA | De novo | L?fgren A.2010(unpublished) |
| 1367 | 25 | c.4676T>A | p.Met1559Lys | DIVS1 | Missense | N→P/﹢ (95) | SMEI | NA | Kumar A.2018 |
| 1368 | 25 | c.4679delTinsAG | p.Val1560GlufsX5 | DIVS1 | Frameshift | Haploinsufficiency | SMEI | NA | Wang JW.2012 |
| 1369 | 25 | c.4681G>A | p.Glu1561Lys | DIVS2 | Missense | P/﹣→P/﹢(56) | SMEI | NA | Depienne C.2009 |
| 1370 | 25 | c.4681G>T | p.Glu1561X | DIVS2 | Nonsense | Haploinsufficiency | Ep and/or NDD | NA | Lindy AS.2018 |
| 1371 | 25 | c.4693C>T | p.Gln1565X | DIVS2 | Nonsense | Haploinsufficiency | Ep and/or NDD | NA | Lindy AS.2018 |
| 1372 | 25 | c.4701A>G | p.Glu1567Glu | DIVS2 | Synonymous | ND | Ep and/or NDD | NA | Lindy AS.2018 |
| 1373 | 25 | c.4713delC | p.Thr1571ThrfsX20 | DIVS2 | Frameshift | Haploinsufficiency | SMEB | NA | Wang JW.2012 |
| 1374 | 25 | c.4720delT | p.Ser1574HisfsX17 | DIVS2 | Frameshift | Haploinsufficiency | SMEI | NA | Depienne C.2009 |
| 1375 | 25 | c.4721C>G | p.Ser1574X | DIVS2 | Nonsense | Haploinsufficiency | SME | 2NA | Hattori J.2008 |
| 1376 | 25 | c.[4723C>T(;)1804G>T] | p.[Arg1575Cys(;)Glu602X] | DIVS2 | Missense | [Haploinsufficiency(;)P/﹢→N (180); GOF] | SMEI | Familial(Maternal,asympt),P=1/2 | Depienne C.2006,2009 |
| Compound | |||||||||
| Missense | P/﹢→N (180); GOF | SMEI | NA | Depienne C.2009 | |||||
| c.4723C>T | p.Arg1575Cys | Rasmussen | Familial(Paternal,asympt) | Ohmori I.2008 | |||||
| AERRPS | Familial(Paternal,asympt) | Kobayashi K.2010 | |||||||
| SMEB | Familial(Maternal,asympt) | Lim BC.2011 | |||||||
| SMEI | Familial(Maternal) | Wang JW.2012 | |||||||
| IE | 2NA | Wang JW.2012 | |||||||
| ANE | NA | Saitoh M.2012 | |||||||
| AESD | De novo | Saitoh M.2015 | |||||||
| 1377 | 25 | c.4727T>C | p.Ile1576Thr | DIVS2 | Missense | N→P/O (89) | Phenotype modifier | c.302G>A and c.4727T>CåŒå®¶æ—两个çªå˜ | Tuncer FN.2015 |
| 1378 | 25 | c.4736T>A | p.Val1579Glu | DIVS2 | Missense | N→P/﹣(121) | SMEI | NA | Depienne C.2009 |
| 1379 | 25 | c.4748A>G | p.His1583Arg | DIVS2 | Missense | P/﹢→P/﹢(29) | FS+ | NA | Tan EH.2012 |
| 1380 | 25 | c.4755delT | p.Thr1585fsX6 | DIVS2 | Frameshift | Haploinsufficiency | SMEI | NA | Wang JW.2012 |
| 1381 | 25 | c.4757G>A | p.Gly1586Glu | DIVS2 | Missense | N→P/﹣(98) | SMEI | NA | Depienne C.2009 |
| SMEI | De novo | Sun H.2010 | |||||||
| SMEI | NA | Zuberi SM.2011 | |||||||
| 1382 | 25 | c.4762T>C | p.Cys1588Arg | DIVS2 | Missense | N→P/﹢ (180) | SMEI | De novo | Marini C.2007 |
| SMEI | NA | Zuberi SM.2011 | |||||||
| EE | De novo | Mercimek-Mahmutoglu S.2015 | |||||||
| Epilepsy and/or NDD | NA | Lindy AS.2018 | |||||||
| 1383 | 25 | c.4763_4784insT | p.C1588LfsX21 | DIVS2 | Frameshift | Haploinsufficiency | SMEI | De novo | Orrico A.2009 |
| 1384 | 25 | c.4764T>A | p.Cys1588X | DIVS2 | Nonsense | Haploinsufficiency | SMEI | NA | Cetica V.2017 |
| 1385 | 25 | c.4766T>G | p.Val1589Gly | DIVS2 | Missense | N→N (109) | SMEI | NA | Xu X.2015 |
| 1386 | 25 | c.4769T>C | p.Leu1590Pro | DIVS2 | Missense | N→N (98) | EE (early infantile) | NA | Ostrander BEP.2018 |
| 1387 | 26 | c.4771A>T | p.K1591X | DIVS2 | Nonsense | Haploinsufficiency | SMEI | NA | Wang JW.2012 |
| 1388 | 25 | c.4775T>A | p.Leu1592His | DIVS2 | Missense | N→P/﹢(99) | SMEB | NA | Zuberi SM.2011 |
| 1389 | 25 | c.4775T>C | p.Leu1592Pro | DIVS2 | Missense | N→N (98) | SMEI | NA | Zuberi SM.2011 |
| 1390 | 25 | c.4777_4778delAT | p.Ile1593LeufsX15 | DIVS2 | Frameshift | Haploinsufficiency | Ep and/or NDD | NA | Lindy AS.2018 |
| 1391 | 25 | c.4778T>A | p.Ile1593Asn | DIVS2 | Missense | N→P/O (149) | SMEI | NA | Cho MJ.2018 |
| 1392 | 25 | c.4781_4784delCTCT | p.Ser1594TyrfsX14 | DIVS2 | Frameshift | Haploinsufficiency | SMEI | De novo | Wang JW.2012 |
| 1393 | 25 | c.4781C>A | p.Ser1594Tyr | DIVS2 | Missense | P/O→P/O (144) | Abnormality of the nervous system | Familial.Paternal,asympt), | Retterer K.2016 |
| Abnormality of the nervous system | Familial.Paternal,asympt), | Stosser MB.2018 | |||||||
| 1394 | 25 | c.4783_4784delCT | p.Leu1595ThrfsX13 | DIVS2 | Frameshift | Haploinsufficiency | SMEI | NA | Wang JW.2012 |
| 1395 | 25 | c.4786C>T | p.Arg1596Cys | DIVS2-S3 | Missense | P/﹢→N (180) | CFE(SIMFE/No FS) | De novo | Harkin LA.2007 |
| FS+ | De novo | Dlugos DJ.2007 | |||||||
| SME(late-onset) | De novo | Depienne C.2009 | |||||||
| PEFS+ | De novo | Kim YO.2014 | |||||||
| DS-atypical | Familial (Paternal,Afebrile EP) | Hoffman-Zacharska D.2015 | |||||||
| SME | De novo | Djemie T.2016 | |||||||
| Epilepsy and/or NDD | NA | Lindy AS.2018 | |||||||
| 1396 | 25 | c.4787G>A | p.Arg1596His | DIVS2-S3 | Missense | P/﹢→P/﹢(29) | GEFS+ | Familial(Paternal) | Zuberi SM.2011 |
| GEFS+ | Familial (Paternal, FS+EP) | Hoffman-Zacharska D.2015 | |||||||
| PE | Familial (Paternal,FS) | Hoffman-Zacharska D.2015 | |||||||
| 1397 | 25 | c.4787G>T | p.Arg1596Leu | DIVS2-S3 | Missense | P/﹢→N (102) | SMEI | De novo | Depienne C.2009 |
| 1398 | 25 | c.4793A>T | p.Tyr1598Phe | DIVS2-S3 | Missense | P/O→N (22) | GEFS+ | 2NA | L?fgren A.2010(unpublished) |
| Epilepsy and/or NDD | NA | Lindy AS.2018 | |||||||
| 1399 | 25 | c.4794T>A | p.Tyr1598X | DIVS2-S3 | Nonsense | Haploinsufficiency | SMEI | De novo | Harkin LA.2007 |
| 1400 | 25 | c.4794T>G | p.Tyr1598X | DIVS2-S3 | Nonsense | Haploinsufficiency | Ep and/or NDD | NA | Lindy AS.2018 |
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.