Adjusted records

Mutation reports that were adjusted in one way or another to fit the SCN1A infobase dataset, usually because the original nomenclature referred to an  Nav1.1 isoform that was not full-length. Some records were also corrected if an intrinsic inconsistency was apparent.
No. Original Reference Adjusted Other
1 V144fsX148 Fukuma et al., Epilepsia 45:140 (2004) V143fsX148  
2 N648K? American Epilepsy Society, Ann. Meet. 2007, Poster 3.344   T1910G does not exist…
3 P696fsX703 Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) P707fsX715  
4 R701X Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) R712X  
5 Y779C Annesi et al., Epilepsia 44:1257 (2003) Y790C  
6 G842fsX853 Buoni et al., Neurology 66:606 (2006) G854fs876X NA: G2561del
7 R854X Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) R865X  
8 T875P http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=563792 T886P SNP
9 V890I http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=12617205 V901I SNP
10 F891C Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) F902C  
11 S914fsX934 Kearney et al., Hum Mol Genet 15:1043 (2006) ? 914 does not exist; S915? but: no "single-base pair deletion will truncate at 934
12 R921C Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) R931C  
13 M924I Fukuma et al., Epilepsia 45:140 (2004) M934I  
14 V934A Fukuma et al., Epilepsia 45:140 (2004) V944A  
15 R936C Fukuma et al., Epilepsia 45:140 (2004) R946C  
16 R936H Fukuma et al., Epilepsia 45:140 (2004) R946H  
17 W942X Fukuma et al., Epilepsia 45:140 (2004) W952X?  
18 D947fsX962 Sugawara et al., Neurology 58:1122 (2002) D958fsX964  
19 A992fsX999 Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) A1002fsX1009  
20 K1017X Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) K1027X  
21 A1056T http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=2298771 A1066T SNP
22 T1057A Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) T1067A SNP
23 L1165fsX1172 Fukuma et al., Epilepsia 45:140 (2004) L1175fsX1182  
24 T1072fsX1077 Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) T1082fsX1086  
25 W1193X Sugawara et al., Neurology 58:1122 (2002) W1204X  
26 V1215X Nabbout et al., Neurology 60:1961 (2003) I1214X  
27 L1255P Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) L1265P  
28 W1261X Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) W1271X  
29 F1279del Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) F1289del  
30 [F]1298del Mancardi et al., Epilepsia 47:1629 (2006) F1289del  
31 M1333X Mancardi et al., Epilepsia 47:1629 (2006)   deletion improperly reported as 3997-4002del, which is in-frame and would simply delete M1333 and R1334
32 L1345P Fukuma et al., Epilepsia 45:140 (2004) L1355P  
33 V1380M Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) V1390M  
34 R1396X Sugawara et al., Neurology 58:1122 (2002) R1407X  
35 R1397X Fukuma et al., Epilepsia 45:140 (2004) R1407X  
36 V1417A Ito et al., Epilepsy Res 48:15 (2002) V1428A  
37 A1419fsX1433 Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) A1429fsX1443  
38 W1424R Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) W1434R  
39 Q1440R Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) Q1450R  
40 Q1496fsX1500 Mancardi et al., Epilepsia 47:1629 (2006) G1495fsX1500 [G]4484del not 4486
41 S1505X Sugawara et al., Neurology 58:1122 (2002) S1516X  
42 M1549del Fukuma et al., Epilepsia 45:140 (2004) M1558del  
43 F1576del Fukuma et al., Epilepsia 45:140 (2004) F1584del  
44 R1635X Fukuma et al., Epilepsia 45:140 (2004) R1645X  
45 L1539L Holland et al., Neurosci Lett 433:65 (2008) L1550L SNP
46 R1638C Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) R1648C  
47 L1659fsX1667 Sugawara et al., Neurology 58:1122 (2002) L1670fsX1678  
48 G1664R Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) G1674R  
49 A1674V Ito et al., Epilepsy Res 48:15 (2002) A1685V  
50 F1682S Fukuma et al., Epilepsia 45:140 (2004) F1692S  
51 Y1684C Fukuma et al., Epilepsia 45:140 (2004) Y1694C  
52 F1756del Fukuma et al., Epilepsia 45:140 (2004) F1766del  
53 Y1771C Fukuma et al., Epilepsia 45:140 (2004) Y1781C  
54 M1841T Annesi et al., Epilepsia 44:1257 (2003) M1852T  
55 G1870fsX1871 Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) G1880fsX1881  
56 R1881X Sugawara et al., Neurology 58:1122 (2002) R1892X  
57 R1882X Fukuma et al., Epilepsia 45:140 (2004) R1892X  
58 Q1893fsX1934 Sugawara et al., Neurology 58:1122 (2002) Q1904fsX1945  
59 T1899I Ohmori et al., Biochem Biophys Res Commun 295:17 (2002) T1909I  
60 R1902X Fukuma et al., Epilepsia 45:140 (2004) R1912X  
61 R1913H n/a R1924H  
62 R1916G n/a R1928G  
63 I1944T http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=3749029 I1955T