Single nucleotide polymorphisms (SNPs)

Non-pathogenic variations in the coding regions of SCN1A.


CountORF position
Exon
Change (NA)Change (AA)
Topology
Phenotype
 Reference
1351G105AK35KN-terminusSNPhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=41265141
2621C184insP62fs87XN-terminusFShttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=35595680
31152T345CN115NN-terminusSNPWeiss et al., Mol Psychiatr 8:186 (2003)
41212T363CA121AN-terminusSNPWeiss et al., Mol Psychiatr 8:186 (2003)
51433G429AV143VD1/S1SNPClaes et al., Hum Mut 21:615 (2003)
62456G735TK245ND1/S4-S5inSNPMorimoto et al., Epilepsia 47:1732 (2006)
786214A2586GR862RD2/S4SNPMarini et al., Epilepsia 47:1737 (2006)
83437G1029G?G343EP1SNPFujiwara et al., Brain 126:531 (2003)
94049G1212AV404VD1/S6SNPClaes et al., Hum Mut 21:615 (2003) and Weiss et al., Mol Psychiatr 8:186 (2003)
1054210G1625AR542QL1SNPEscayg et al., Am J Hum Genet 68:866 (2001)
1155410A1661GQ554RL1SNPhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=13424709
1258311A1748TD583VL1SNPhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=28934003
1360411G1811AR604HL1SNPEscayg et al., Am J Hum Genet 68:866 (2001)
1469912G2095AV699IL1SNPEscayg et al., Am J Hum Genet 68:866 (2001)
1575313T2259CY753YL1SNPhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=6432860
1676413C2292TV764VD2/S1SNPClaes et al., Hum Mut 21:615 (2003)
1780513G2415AL805LD2/S2SNPMarini et al., Epilepsia 47:1737 (2006)
1888615T2656CT886PD2/S4-S5inSNP
1990115G2701V901ID2/S5SNP
2096315T2889CA963AP2SNPWeiss et al., Mol Psychiatr 8:186 (2003)
21979152890AAACinsG979XD2/S6SNPhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=10613159
22106616G3196AA1066TL2SNP
23106716A3199GT1067AL2SNPEscayg et al., Am J Hum Genet 68:866 (2001)
24108116G3241AG1081RL2SNPEscayg et al., Am J Hum Genet 68:866 (2001)
25116117G3481AA1161TL2SNPEscayg et al., Am J Hum Genet 68:866 (2001)
26117417C3521GT1174SL2SNPEscayg et al., Am J Hum Genet 68:866 (2001)
27123018T3690CY1230YD3/S1SNPhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=36031496 or Holland et al., 2008
28155025C4650GL1550LD4/S1SNP
29164826
R1648RD4/S4SNP?
30165826G4974CT1658TD4/S4-S5inSNPWeiss et al., Mol Psychiatr 8:186 (2003)
31180626G5418AE1806EC-terminusSNPWeiss et al., Mol Psychiatr 8:186 (2003)
32192426G5771AR1924HC-terminusSNPhttp://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=3749029
33192826C5782GR1928GC-terminusSNP?Wallace et al., Am J Hum Genet 68:859 (2001)
34195526T5864CI1955TC-terminusSNP

The nomenclature of the amino acid changes uses the single-letter amino acid code with the original residue at the beginning, followed by the open reading frame position and the residue present in the mutant. Exon-intron boundaries were deduced from rat Scn1a using NCBI's Basic Local Alignment Tool (BLAST, http://blast.ncbi.nlm.nih.gov/Blast.cgi). An effort was made to reference the first report of the mutation. Topological data are taken from the secondary structure suggested in Escayg and colleagues in 2000. Nonstandard denominations: X: termination codon, del: deletion of residue/base, P37fsX91 (example): frameshift with proline 37 being the last wildtype residue, followed by nonsense residues until ORF position 91, where the protein is prematurely terminated, AA: amino acid, D1/S2 (example): Domain 1/Transmembrane region 2 (topology code indexes "in" and "ex" denote internal and external loop, respectively), NA: nucleic acid. Phenotype abbreviations are explained here.