sodium channel, voltage-gated, type I, alpha subunit (SCN1A) - coding DNA reference sequence

(used for variant description)

(last modified December 10, 2013)


This file was created to facilitate the description of sequence variants on transcript NM_001165963.1 in the SCN1A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000002.11, covering SCN1A transcript NM_001165963.1.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.80511
                                           aatgtgcaggatgacaag       c.-1

          .         .         .         .         .         .       g.80571
 ATGGAGCAAACAGTGCTTGTACCACCAGGACCTGACAGCTTCAACTTCTTCACCAGAGAA       c.60
 M  E  Q  T  V  L  V  P  P  G  P  D  S  F  N  F  F  T  R  E         p.20

          .         .         .         .         .         .       g.80631
 TCTCTTGCGGCTATTGAAAGACGCATTGCAGAAGAAAAGGCAAAGAATCCCAAACCAGAC       c.120
 S  L  A  A  I  E  R  R  I  A  E  E  K  A  K  N  P  K  P  D         p.40

          .         .         .         .         .         .       g.80691
 AAAAAAGATGACGACGAAAATGGCCCAAAGCCAAATAGTGACTTGGAAGCTGGAAAGAAC       c.180
 K  K  D  D  D  E  N  G  P  K  P  N  S  D  L  E  A  G  K  N         p.60

          .         .         .         .         .         .       g.80751
 CTTCCATTTATTTATGGAGACATTCCTCCAGAGATGGTGTCAGAGCCCCTGGAGGACCTG       c.240
 L  P  F  I  Y  G  D  I  P  P  E  M  V  S  E  P  L  E  D  L         p.80

          .         .     | 02   .         .         .         .    g.95480
 GACCCCTACTATATCAATAAGAAA | ACTTTTATAGTATTGAATAAAGGGAAGGCCATCTTC    c.300
 D  P  Y  Y  I  N  K  K   | T  F  I  V  L  N  K  G  K  A  I  F      p.100

          .         .         .         .         .         .       g.95540
 CGGTTCAGTGCCACCTCTGCCCTGTACATTTTAACTCCCTTCAATCCTCTTAGGAAAATA       c.360
 R  F  S  A  T  S  A  L  Y  I  L  T  P  F  N  P  L  R  K  I         p.120

          .         .    | 03    .         .         .         .    g.97669
 GCTATTAAGATTTTGGTACATTC | ATTATTCAGCATGCTAATTATGTGCACTATTTTGACA    c.420
 A  I  K  I  L  V  H  S  |  L  F  S  M  L  I  M  C  T  I  L  T      p.140

          .         .         .         .         .    | 04    .    g.99373
 AACTGTGTGTTTATGACAATGAGTAACCCTCCTGATTGGACAAAGAATGTAGA | ATACACC    c.480
 N  C  V  F  M  T  M  S  N  P  P  D  W  T  K  N  V  E  |  Y  T      p.160

          .         .         .         .         .         .       g.99433
 TTCACAGGAATATATACTTTTGAATCACTTATAAAAATTATTGCAAGGGGATTCTGTTTA       c.540
 F  T  G  I  Y  T  F  E  S  L  I  K  I  I  A  R  G  F  C  L         p.180

          .         .         .         .         .         .       g.99493
 GAAGATTTTACTTTCCTTCGGGATCCATGGAACTGGCTCGATTTCACTGTCATTACATTT       c.600
 E  D  F  T  F  L  R  D  P  W  N  W  L  D  F  T  V  I  T  F         p.200

    | 05     .         .         .         .         .         .    g.101247
 GC | GTACGTCACAGAGTTTGTGGACCTGGGCAATGTCTCGGCATTGAGAACATTCAGAGTT    c.660
 A  |  Y  V  T  E  F  V  D  L  G  N  V  S  A  L  R  T  F  R  V      p.220

          .         .         .     | 06   .         .         .    g.102170
 CTCCGAGCATTGAAGACGATTTCAGTCATTCCAG | GCCTGAAAACCATTGTGGGAGCCCTG    c.720
 L  R  A  L  K  T  I  S  V  I  P  G |   L  K  T  I  V  G  A  L      p.240

          .         .         .         .         .         .       g.102230
 ATCCAGTCTGTGAAGAAGCTCTCAGATGTAATGATCCTGACTGTGTTCTGTCTGAGCGTA       c.780
 I  Q  S  V  K  K  L  S  D  V  M  I  L  T  V  F  C  L  S  V         p.260

          .         .         .         .         .         .       g.102290
 TTTGCTCTAATTGGGCTGCAGCTGTTCATGGGCAACCTGAGGAATAAATGTATACAATGG       c.840
 F  A  L  I  G  L  Q  L  F  M  G  N  L  R  N  K  C  I  Q  W         p.280

          .         .         .         .         .         .       g.102350
 CCTCCCACCAATGCTTCCTTGGAGGAACATAGTATAGAAAAGAATATAACTGTGAATTAT       c.900
 P  P  T  N  A  S  L  E  E  H  S  I  E  K  N  I  T  V  N  Y         p.300

          .         .         .         .         .         .       g.102410
 AATGGTACACTTATAAATGAAACTGTCTTTGAGTTTGACTGGAAGTCATATATTCAAGAT       c.960
 N  G  T  L  I  N  E  T  V  F  E  F  D  W  K  S  Y  I  Q  D         p.320

      | 07   .         .         .         .         .         .    g.105239
 TCAA | GATATCATTATTTCCTGGAGGGTTTTTTAGATGCACTACTATGTGGAAATAGCTCT    c.1020
 S  R |   Y  H  Y  F  L  E  G  F  L  D  A  L  L  C  G  N  S  S      p.340

          | 08         .         .         .         .         .    g.106416
 GATGCAGG | CCAATGTCCAGAGGGATATATGTGTGTGAAAGCTGGTAGAAATCCCAATTAT    c.1080
 D  A  G  |  Q  C  P  E  G  Y  M  C  V  K  A  G  R  N  P  N  Y      p.360

          .         .         .         .         .         .       g.106476
 GGCTACACAAGCTTTGATACCTTCAGTTGGGCTTTTTTGTCCTTGTTTCGACTAATGACT       c.1140
 G  Y  T  S  F  D  T  F  S  W  A  F  L  S  L  F  R  L  M  T         p.380

          .         .         . | 09       .         .         .    g.107186
 CAGGACTTCTGGGAAAATCTTTATCAACTG | ACATTACGTGCTGCTGGGAAAACGTACATG    c.1200
 Q  D  F  W  E  N  L  Y  Q  L   | T  L  R  A  A  G  K  T  Y  M      p.400

          .         .         .         .         .         .       g.107246
 ATATTTTTTGTATTGGTCATTTTCTTGGGCTCATTCTACCTAATAAATTTGATCCTGGCT       c.1260
 I  F  F  V  L  V  I  F  L  G  S  F  Y  L  I  N  L  I  L  A         p.420

          .         .         .         .         .         .       g.107306
 GTGGTGGCCATGGCCTACGAGGAACAGAATCAGGCCACCTTGGAAGAAGCAGAACAGAAA       c.1320
 V  V  A  M  A  Y  E  E  Q  N  Q  A  T  L  E  E  A  E  Q  K         p.440

          .         .         .         .         .        | 10.    g.108808
 GAGGCCGAATTTCAGCAGATGATTGAACAGCTTAAAAAGCAACAGGAGGCAGCTCAG | CAG    c.1380
 E  A  E  F  Q  Q  M  I  E  Q  L  K  K  Q  Q  E  A  A  Q   | Q      p.460

          .         .         .         .         .         .       g.108868
 GCAGCAACGGCAACTGCCTCAGAACATTCCAGAGAGCCCAGTGCAGCAGGCAGGCTCTCA       c.1440
 A  A  T  A  T  A  S  E  H  S  R  E  P  S  A  A  G  R  L  S         p.480

          .         .         .         .         .         .       g.108928
 GACAGCTCATCTGAAGCCTCTAAGTTGAGTTCCAAGAGTGCTAAGGAAAGAAGAAATCGG       c.1500
 D  S  S  S  E  A  S  K  L  S  S  K  S  A  K  E  R  R  N  R         p.500

          .         .         .         .         .         .       g.108988
 AGGAAGAAAAGAAAACAGAAAGAGCAGTCTGGTGGGGAAGAGAAAGATGAGGATGAATTC       c.1560
 R  K  K  R  K  Q  K  E  Q  S  G  G  E  E  K  D  E  D  E  F         p.520

          .         .         .         .         .         .       g.109048
 CAAAAATCTGAATCTGAGGACAGCATCAGGAGGAAAGGTTTTCGCTTCTCCATTGAAGGG       c.1620
 Q  K  S  E  S  E  D  S  I  R  R  K  G  F  R  F  S  I  E  G         p.540

          .         .         .         .   | 11     .         .    g.110101
 AACCGATTGACATATGAAAAGAGGTACTCCTCCCCACACCAG | TCTTTGTTGAGCATCCGT    c.1680
 N  R  L  T  Y  E  K  R  Y  S  S  P  H  Q   | S  L  L  S  I  R      p.560

          .         .         .         .         .         .       g.110161
 GGCTCCCTATTTTCACCAAGGCGAAATAGCAGAACAAGCCTTTTCAGCTTTAGAGGGCGA       c.1740
 G  S  L  F  S  P  R  R  N  S  R  T  S  L  F  S  F  R  G  R         p.580

          .         .         .         .         .         .       g.110221
 GCAAAGGATGTGGGATCTGAGAACGACTTCGCAGATGATGAGCACAGCACCTTTGAGGAT       c.1800
 A  K  D  V  G  S  E  N  D  F  A  D  D  E  H  S  T  F  E  D         p.600

          .         .         .         .         .         .       g.110281
 AACGAGAGCCGTAGAGATTCCTTGTTTGTGCCCCGACGACACGGAGAGAGACGCAACAGC       c.1860
 N  E  S  R  R  D  S  L  F  V  P  R  R  H  G  E  R  R  N  S         p.620

          .         .         .         .         .         .       g.110341
 AACCTGAGTCAGACCAGTAGGTCATCCCGGATGCTGGCAGTGTTTCCAGCGAATGGGAAG       c.1920
 N  L  S  Q  T  S  R  S  S  R  M  L  A  V  F  P  A  N  G  K         p.640

          .         .         .         .         .         .       g.110401
 ATGCACAGCACTGTGGATTGCAATGGTGTGGTTTCCTTGGTTGGTGGACCTTCAGTTCCT       c.1980
 M  H  S  T  V  D  C  N  G  V  V  S  L  V  G  G  P  S  V  P         p.660

          .         .         .         .         .         .       g.110461
 ACATCGCCTGTTGGACAGCTTCTGCCAGAGGTGATAATAGATAAGCCAGCTACTGATGAC       c.2040
 T  S  P  V  G  Q  L  L  P  E  V  I  I  D  K  P  A  T  D  D         p.680

     | 12    .         .         .         .         .         .    g.111765
 AAT | GGAACAACCACTGAAACTGAAATGAGAAAGAGAAGGTCAAGTTCTTTCCACGTTTCC    c.2100
 N   | G  T  T  T  E  T  E  M  R  K  R  R  S  S  S  F  H  V  S      p.700

          .         .         .         .         .         .       g.111825
 ATGGACTTTCTAGAAGATCCTTCCCAAAGGCAACGAGCAATGAGTATAGCCAGCATTCTA       c.2160
 M  D  F  L  E  D  P  S  Q  R  Q  R  A  M  S  I  A  S  I  L         p.720

          .       | 13 .         .         .         .         .    g.112707
 ACAAATACAGTAGAAG | AACTTGAAGAATCCAGGCAGAAATGCCCACCCTGTTGGTATAAA    c.2220
 T  N  T  V  E  E |   L  E  E  S  R  Q  K  C  P  P  C  W  Y  K      p.740

          .         .         .         .         .         .       g.112767
 TTTTCCAACATATTCTTAATCTGGGACTGTTCTCCATATTGGTTAAAAGTGAAACATGTT       c.2280
 F  S  N  I  F  L  I  W  D  C  S  P  Y  W  L  K  V  K  H  V         p.760

          .         .         .         .         .         .       g.112827
 GTCAACCTGGTTGTGATGGACCCATTTGTTGACCTGGCCATCACCATCTGTATTGTCTTA       c.2340
 V  N  L  V  V  M  D  P  F  V  D  L  A  I  T  I  C  I  V  L         p.780

          .         .         .         .         .         .       g.112887
 AATACTCTTTTCATGGCCATGGAGCACTATCCAATGACGGACCATTTCAATAATGTGCTT       c.2400
 N  T  L  F  M  A  M  E  H  Y  P  M  T  D  H  F  N  N  V  L         p.800

          .      | 14  .         .         .         .         .    g.114581
 ACAGTAGGAAACTTG | GTTTTCACTGGGATCTTTACAGCAGAAATGTTTCTGAAAATTATT    c.2460
 T  V  G  N  L   | V  F  T  G  I  F  T  A  E  M  F  L  K  I  I      p.820

          .         .         .         .         .         .       g.114641
 GCCATGGATCCTTACTATTATTTCCAAGAAGGCTGGAATATCTTTGACGGTTTTATTGTG       c.2520
 A  M  D  P  Y  Y  Y  F  Q  E  G  W  N  I  F  D  G  F  I  V         p.840

          .         .         .         .         .         .       g.114701
 ACGCTTAGCCTGGTAGAACTTGGACTCGCCAATGTGGAAGGATTATCTGTTCTCCGTTCA       c.2580
 T  L  S  L  V  E  L  G  L  A  N  V  E  G  L  S  V  L  R  S         p.860

           | 15        .         .         .         .         .    g.116051
 TTTCGATTG | CTGCGAGTTTTCAAGTTGGCAAAATCTTGGCCAACGTTAAATATGCTAATA    c.2640
 F  R  L   | L  R  V  F  K  L  A  K  S  W  P  T  L  N  M  L  I      p.880

          .         .         .         .         .         .       g.116111
 AAGATCATCGGCAATTCCGTGGGGGCTCTGGGAAATTTAACCCTCGTCTTGGCCATCATC       c.2700
 K  I  I  G  N  S  V  G  A  L  G  N  L  T  L  V  L  A  I  I         p.900

          .         .         .         .         .         .       g.116171
 GTCTTCATTTTTGCCGTGGTCGGCATGCAGCTCTTTGGTAAAAGCTACAAAGATTGTGTC       c.2760
 V  F  I  F  A  V  V  G  M  Q  L  F  G  K  S  Y  K  D  C  V         p.920

          .         .         .         .         .         .       g.116231
 TGCAAGATCGCCAGTGATTGTCAACTCCCACGCTGGCACATGAATGACTTCTTCCACTCC       c.2820
 C  K  I  A  S  D  C  Q  L  P  R  W  H  M  N  D  F  F  H  S         p.940

          .         .         .         .         .         .       g.116291
 TTCCTGATTGTGTTCCGCGTGCTGTGTGGGGAGTGGATAGAGACCATGTGGGACTGTATG       c.2880
 F  L  I  V  F  R  V  L  C  G  E  W  I  E  T  M  W  D  C  M         p.960

          .         .         .         .         .         .       g.116351
 GAGGTTGCTGGTCAAGCCATGTGCCTTACTGTCTTCATGATGGTCATGGTGATTGGAAAC       c.2940
 E  V  A  G  Q  A  M  C  L  T  V  F  M  M  V  M  V  I  G  N         p.980

        | 16 .         .         .         .         .         .    g.117656
 CTAGTG | GTCCTGAATCTCTTTCTGGCCTTGCTTCTGAGCTCATTTAGTGCAGACAACCTT    c.3000
 L  V   | V  L  N  L  F  L  A  L  L  L  S  S  F  S  A  D  N  L      p.1000

          .         .         .         .         .         .       g.117716
 GCAGCCACTGATGATGATAATGAAATGAATAATCTCCAAATTGCTGTGGATAGGATGCAC       c.3060
 A  A  T  D  D  D  N  E  M  N  N  L  Q  I  A  V  D  R  M  H         p.1020

          .         .         .         .         .         .       g.117776
 AAAGGAGTAGCTTATGTGAAAAGAAAAATATATGAATTTATTCAACAGTCCTTCATTAGG       c.3120
 K  G  V  A  Y  V  K  R  K  I  Y  E  F  I  Q  Q  S  F  I  R         p.1040

          .         .         .         .         .         .       g.117836
 AAACAAAAGATTTTAGATGAAATTAAACCACTTGATGATCTAAACAACAAGAAAGACAGT       c.3180
 K  Q  K  I  L  D  E  I  K  P  L  D  D  L  N  N  K  K  D  S         p.1060

          .         .         .         .         .         .       g.117896
 TGTATGTCCAATCATACAGCAGAAATTGGGAAAGATCTTGACTATCTTAAAGATGTAAAT       c.3240
 C  M  S  N  H  T  A  E  I  G  K  D  L  D  Y  L  K  D  V  N         p.1080

          .         .         .         .         .         .       g.117956
 GGAACTACAAGTGGTATAGGAACTGGCAGCAGTGTTGAAAAATACATTATTGATGAAAGT       c.3300
 G  T  T  S  G  I  G  T  G  S  S  V  E  K  Y  I  I  D  E  S         p.1100

          .         .         .         .         .         .       g.118016
 GATTACATGTCATTCATAAACAACCCCAGTCTTACTGTGACTGTACCAATTGCTGTAGGA       c.3360
 D  Y  M  S  F  I  N  N  P  S  L  T  V  T  V  P  I  A  V  G         p.1120

          .         .         .         .         .         .       g.118076
 GAATCTGACTTTGAAAATTTAAACACGGAAGACTTTAGTAGTGAATCGGATCTGGAAGAA       c.3420
 E  S  D  F  E  N  L  N  T  E  D  F  S  S  E  S  D  L  E  E         p.1140

           | 17        .         .         .         .         .    g.138456
 AGCAAAGAG | AAACTGAATGAAAGCAGTAGCTCATCAGAAGGTAGCACTGTGGACATCGGC    c.3480
 S  K  E   | K  L  N  E  S  S  S  S  S  E  G  S  T  V  D  I  G      p.1160

          .         .         .         .         .         .       g.138516
 GCACCTGTAGAAGAACAGCCCGTAGTGGAACCTGAAGAAACTCTTGAACCAGAAGCTTGT       c.3540
 A  P  V  E  E  Q  P  V  V  E  P  E  E  T  L  E  P  E  A  C         p.1180

          . | 18       .         .         .         .         .    g.140284
 TTCACTGAAG | GCTGTGTACAAAGATTCAAGTGTTGTCAAATCAATGTGGAAGAAGGCAGA    c.3600
 F  T  E  G |   C  V  Q  R  F  K  C  C  Q  I  N  V  E  E  G  R      p.1200

          .         .         .         .         .         .       g.140344
 GGAAAACAATGGTGGAACCTGAGAAGGACGTGTTTCCGAATAGTTGAACATAACTGGTTT       c.3660
 G  K  Q  W  W  N  L  R  R  T  C  F  R  I  V  E  H  N  W  F         p.1220

          .         .         .         .      | 19  .         .    g.141865
 GAGACCTTCATTGTTTTCATGATTCTCCTTAGTAGTGGTGCTCTG | GCATTTGAAGATATA    c.3720
 E  T  F  I  V  F  M  I  L  L  S  S  G  A  L   | A  F  E  D  I      p.1240

          .         .         .         .         .         .       g.141925
 TATATTGATCAGCGAAAGACGATTAAGACGATGTTGGAATATGCTGACAAGGTTTTCACT       c.3780
 Y  I  D  Q  R  K  T  I  K  T  M  L  E  Y  A  D  K  V  F  T         p.1260

          .         .         .         .         .         .       g.141985
 TACATTTTCATTCTGGAAATGCTTCTAAAATGGGTGGCATATGGCTATCAAACATATTTC       c.3840
 Y  I  F  I  L  E  M  L  L  K  W  V  A  Y  G  Y  Q  T  Y  F         p.1280

          .         .         .          | 20        .         .    g.144312
 ACCAATGCCTGGTGTTGGCTGGACTTCTTAATTGTTGAT | GTTTCATTGGTCAGTTTAACA    c.3900
 T  N  A  W  C  W  L  D  F  L  I  V  D   | V  S  L  V  S  L  T      p.1300

          .         .         .         .         .         .       g.144372
 GCAAATGCCTTGGGTTACTCAGAACTTGGAGCCATCAAATCTCTCAGGACACTAAGAGCT       c.3960
 A  N  A  L  G  Y  S  E  L  G  A  I  K  S  L  R  T  L  R  A         p.1320

          .         .         .         .   | 21     .         .    g.151397
 CTGAGACCTCTAAGAGCCTTATCTCGATTTGAAGGGATGAGG | GTGGTTGTGAATGCCCTT    c.4020
 L  R  P  L  R  A  L  S  R  F  E  G  M  R   | V  V  V  N  A  L      p.1340

          .         .         .         .         .         .       g.151457
 TTAGGAGCAATTCCATCCATCATGAATGTGCTTCTGGTTTGTCTTATATTCTGGCTAATT       c.4080
 L  G  A  I  P  S  I  M  N  V  L  L  V  C  L  I  F  W  L  I         p.1360

          .         .         .         .         .         .       g.151517
 TTCAGCATCATGGGCGTAAATTTGTTTGCTGGCAAATTCTACCACTGTATTAACACCACA       c.4140
 F  S  I  M  G  V  N  L  F  A  G  K  F  Y  H  C  I  N  T  T         p.1380

          .         .         .         .         .         .       g.151577
 ACTGGTGACAGGTTTGACATCGAAGACGTGAATAATCATACTGATTGCCTAAAACTAATA       c.4200
 T  G  D  R  F  D  I  E  D  V  N  N  H  T  D  C  L  K  L  I         p.1400

          .         .         .         .         .         .       g.151637
 GAAAGAAATGAGACTGCTCGATGGAAAAATGTGAAAGTAAACTTTGATAATGTAGGATTT       c.4260
 E  R  N  E  T  A  R  W  K  N  V  K  V  N  F  D  N  V  G  F         p.1420

          .         .     | 22   .         .         .         .    g.154392
 GGGTATCTCTCTTTGCTTCAAGTT | GCCACATTCAAAGGATGGATGGATATAATGTATGCA    c.4320
 G  Y  L  S  L  L  Q  V   | A  T  F  K  G  W  M  D  I  M  Y  A      p.1440

          .         | 23         .         .         .         .    g.155999
 GCAGTTGATTCCAGAAAT | GTGGAACTCCAGCCTAAGTATGAAGAAAGTCTGTACATGTAT    c.4380
 A  V  D  S  R  N   | V  E  L  Q  P  K  Y  E  E  S  L  Y  M  Y      p.1460

          .         .         .         .         .         .       g.156059
 CTTTACTTTGTTATTTTCATCATCTTTGGGTCCTTCTTCACCTTGAACCTGTTTATTGGT       c.4440
 L  Y  F  V  I  F  I  I  F  G  S  F  F  T  L  N  L  F  I  G         p.1480

          .         .         .       | 24 .         .         .    g.158039
 GTCATCATAGATAATTTCAACCAGCAGAAAAAGAAG | TTTGGAGGTCAAGACATCTTTATG    c.4500
 V  I  I  D  N  F  N  Q  Q  K  K  K   | F  G  G  Q  D  I  F  M      p.1500

          .         .         .         .         .         .       g.158099
 ACAGAAGAACAGAAGAAATACTATAATGCAATGAAAAAATTAGGATCGAAAAAACCGCAA       c.4560
 T  E  E  Q  K  K  Y  Y  N  A  M  K  K  L  G  S  K  K  P  Q         p.1520

          .         .  | 25      .         .         .         .    g.159755
 AAGCCTATACCTCGACCAGGA | AACAAATTTCAAGGAATGGTCTTTGACTTCGTAACCAGA    c.4620
 K  P  I  P  R  P  G   | N  K  F  Q  G  M  V  F  D  F  V  T  R      p.1540

          .         .         .         .         .         .       g.159815
 CAAGTTTTTGACATAAGCATCATGATTCTCATCTGTCTTAACATGGTCACAATGATGGTG       c.4680
 Q  V  F  D  I  S  I  M  I  L  I  C  L  N  M  V  T  M  M  V         p.1560

          .         .         .         .         .         .       g.159875
 GAAACAGATGACCAGAGTGAATATGTGACTACCATTTTGTCACGCATCAATCTGGTGTTC       c.4740
 E  T  D  D  Q  S  E  Y  V  T  T  I  L  S  R  I  N  L  V  F         p.1580

          .         .         .         .         .         .       g.159935
 ATTGTGCTATTTACTGGAGAGTGTGTACTGAAACTCATCTCTCTACGCCATTATTATTTT       c.4800
 I  V  L  F  T  G  E  C  V  L  K  L  I  S  L  R  H  Y  Y  F         p.1600

          .         .         .         .         .   | 26     .    g.161718
 ACCATTGGATGGAATATTTTTGATTTTGTGGTTGTCATTCTCTCCATTGTAG | GTATGTTT    c.4860
 T  I  G  W  N  I  F  D  F  V  V  V  I  L  S  I  V  G |   M  F      p.1620

          .         .         .         .         .         .       g.161778
 CTTGCCGAGCTGATAGAAAAGTATTTCGTGTCCCCTACCCTGTTCCGAGTGATCCGTCTT       c.4920
 L  A  E  L  I  E  K  Y  F  V  S  P  T  L  F  R  V  I  R  L         p.1640

          .         .         .         .         .         .       g.161838
 GCTAGGATTGGCCGAATCCTACGTCTGATCAAAGGAGCAAAGGGGATCCGCACGCTGCTC       c.4980
 A  R  I  G  R  I  L  R  L  I  K  G  A  K  G  I  R  T  L  L         p.1660

          .         .         .         .         .         .       g.161898
 TTTGCTTTGATGATGTCCCTTCCTGCGTTGTTTAACATCGGCCTCCTACTCTTCCTAGTC       c.5040
 F  A  L  M  M  S  L  P  A  L  F  N  I  G  L  L  L  F  L  V         p.1680

          .         .         .         .         .         .       g.161958
 ATGTTCATCTACGCCATCTTTGGGATGTCCAACTTTGCCTATGTTAAGAGGGAAGTTGGG       c.5100
 M  F  I  Y  A  I  F  G  M  S  N  F  A  Y  V  K  R  E  V  G         p.1700

          .         .         .         .         .         .       g.162018
 ATCGATGACATGTTCAACTTTGAGACCTTTGGCAACAGCATGATCTGCCTATTCCAAATT       c.5160
 I  D  D  M  F  N  F  E  T  F  G  N  S  M  I  C  L  F  Q  I         p.1720

          .         .         .         .         .         .       g.162078
 ACAACCTCTGCTGGCTGGGATGGATTGCTAGCACCCATTCTCAACAGTAAGCCACCCGAC       c.5220
 T  T  S  A  G  W  D  G  L  L  A  P  I  L  N  S  K  P  P  D         p.1740

          .         .         .         .         .         .       g.162138
 TGTGACCCTAATAAAGTTAACCCTGGAAGCTCAGTTAAGGGAGACTGTGGGAACCCATCT       c.5280
 C  D  P  N  K  V  N  P  G  S  S  V  K  G  D  C  G  N  P  S         p.1760

          .         .         .         .         .         .       g.162198
 GTTGGAATTTTCTTTTTTGTCAGTTACATCATCATATCCTTCCTGGTTGTGGTGAACATG       c.5340
 V  G  I  F  F  F  V  S  Y  I  I  I  S  F  L  V  V  V  N  M         p.1780

          .         .         .         .         .         .       g.162258
 TACATCGCGGTCATCCTGGAGAACTTCAGTGTTGCTACTGAAGAAAGTGCAGAGCCTCTG       c.5400
 Y  I  A  V  I  L  E  N  F  S  V  A  T  E  E  S  A  E  P  L         p.1800

          .         .         .         .         .         .       g.162318
 AGTGAGGATGACTTTGAGATGTTCTATGAGGTTTGGGAGAAGTTTGATCCCGATGCAACT       c.5460
 S  E  D  D  F  E  M  F  Y  E  V  W  E  K  F  D  P  D  A  T         p.1820

          .         .         .         .         .         .       g.162378
 CAGTTCATGGAATTTGAAAAATTATCTCAGTTTGCAGCTGCGCTTGAACCGCCTCTCAAT       c.5520
 Q  F  M  E  F  E  K  L  S  Q  F  A  A  A  L  E  P  P  L  N         p.1840

          .         .         .         .         .         .       g.162438
 CTGCCACAACCAAACAAACTCCAGCTCATTGCCATGGATTTGCCCATGGTGAGTGGTGAC       c.5580
 L  P  Q  P  N  K  L  Q  L  I  A  M  D  L  P  M  V  S  G  D         p.1860

          .         .         .         .         .         .       g.162498
 CGGATCCACTGTCTTGATATCTTATTTGCTTTTACAAAGCGGGTTCTAGGAGAGAGTGGA       c.5640
 R  I  H  C  L  D  I  L  F  A  F  T  K  R  V  L  G  E  S  G         p.1880

          .         .         .         .         .         .       g.162558
 GAGATGGATGCTCTACGAATACAGATGGAAGAGCGATTCATGGCTTCCAATCCTTCCAAG       c.5700
 E  M  D  A  L  R  I  Q  M  E  E  R  F  M  A  S  N  P  S  K         p.1900

          .         .         .         .         .         .       g.162618
 GTCTCCTATCAGCCAATCACTACTACTTTAAAACGAAAACAAGAGGAAGTATCTGCTGTC       c.5760
 V  S  Y  Q  P  I  T  T  T  L  K  R  K  Q  E  E  V  S  A  V         p.1920

          .         .         .         .         .         .       g.162678
 ATTATTCAGCGTGCTTACAGACGCCACCTTTTAAAGCGAACTGTAAAACAAGCTTCCTTT       c.5820
 I  I  Q  R  A  Y  R  R  H  L  L  K  R  T  V  K  Q  A  S  F         p.1940

          .         .         .         .         .         .       g.162738
 ACGTACAATAAAAACAAAATCAAAGGTGGGGCTAATCTTCTTATAAAAGAAGACATGATA       c.5880
 T  Y  N  K  N  K  I  K  G  G  A  N  L  L  I  K  E  D  M  I         p.1960

          .         .         .         .         .         .       g.162798
 ATTGACAGAATAAATGAAAACTCTATTACAGAAAAAACTGATCTGACCATGTCCACTGCA       c.5940
 I  D  R  I  N  E  N  S  I  T  E  K  T  D  L  T  M  S  T  A         p.1980

          .         .         .         .         .         .       g.162858
 GCTTGTCCACCTTCCTATGACCGGGTGACAAAGCCAATTGTGGAAAAACATGAGCAAGAA       c.6000
 A  C  P  P  S  Y  D  R  V  T  K  P  I  V  E  K  H  E  Q  E         p.2000

          .         .         .                                     g.162888
 GGCAAAGATGAAAAAGCCAAAGGGAAATAA                                     c.6030
 G  K  D  E  K  A  K  G  K  X                                       p.2009

          .         .         .         .         .         .       g.162948
 atgaaaataaataaaaataattgggtgacaaattgtttacagcctgtgaaggtgatgtat       c.*60

          .         .         .         .         .         .       g.163008
 ttttatcaacaggactcctttaggaggtcaatgccaaactgactgtttttacacaaatct       c.*120

          .         .         .         .         .         .       g.163068
 ccttaaggtcagtgcctacaataagacagtgaccccttgtcagcaaactgtgactctgtg       c.*180

          .         .         .         .         .         .       g.163128
 taaaggggagatgaccttgacaggaggttactgttctcactaccagctgacactgctgaa       c.*240

          .         .         .         .         .         .       g.163188
 gataagatgcacaatggctagtcagactgtagggaccagtttcaaggggtgcaaacctgt       c.*300

          .         .         .         .         .         .       g.163248
 gattttggggttgtttaacatgaaacactttagtgtagtaattgtatccactgtttgcat       c.*360

          .         .         .         .         .         .       g.163308
 ttcaactgccacatttgtcacatttttatggaatctgttagtggattcatctttttgtta       c.*420

          .         .         .         .         .         .       g.163368
 atccatgtgtttattatatgtgactatttttgtaaacgaagtttctgttgagaaataggc       c.*480

          .         .         .         .         .         .       g.163428
 taaggacctctataacaggtatgccacctggggggtatggcaaccacatggccctcccag       c.*540

          .         .         .         .         .         .       g.163488
 ctacacaaagtcgtggtttgcatgagggcatgctgcacttagagatcatgcatgagaaaa       c.*600

          .         .         .         .         .         .       g.163548
 agtcacaagaaaaacaaattcttaaatttcaccatatttctgggaggggtaattgggtga       c.*660

          .         .         .         .         .         .       g.163608
 taagtggaggtgctttgttgatcttgttttgcgaaatccagcccctagaccaagtagatt       c.*720

          .         .         .         .         .         .       g.163668
 atttgtgggtaggccagtaaatcttagcaggtgcaaacttcattcaaatgtttggagtca       c.*780

          .         .         .         .         .         .       g.163728
 taaatgttatgtttctttttgttgtattaaaaaaaaaacctgaatagtgaatattgcccc       c.*840

          .         .         .         .         .         .       g.163788
 tcaccctccaccgccagaagactgaattgaccaaaattactctttataaatttctgcttt       c.*900

          .         .         .         .         .         .       g.163848
 ttcctgcactttgtttagccatcttcggctctcagcaaggttgacactgtatatgttaat       c.*960

          .         .         .         .         .         .       g.163908
 gaaatgctatttattatgtaaatagtcattttaccctgtggtgcacgtttgagcaaacaa       c.*1020

          .         .         .         .         .         .       g.163968
 ataatgacctaagcacagtatttattgcatcaaatatgtaccacaagaaatgtagagtgc       c.*1080

          .         .         .         .         .         .       g.164028
 aagctttacacaggtaataaaatgtattctgtaccatttatagatagtttggatgctatc       c.*1140

          .         .         .         .         .         .       g.164088
 aatgcatgtttatattaccatgctgctgtatctggtttctctcactgctcagaatctcat       c.*1200

          .         .         .         .         .         .       g.164148
 ttatgagaaaccatatgtcagtggtaaagtcaaggaaattgttcaacagatctcatttat       c.*1260

          .         .         .         .         .         .       g.164208
 ttaagtcattaagcaatagtttgcagcactttaacagctttttggttatttttacatttt       c.*1320

          .         .         .         .         .         .       g.164268
 aagtggataacatatggtatatagccagactgtacagacatgtttaaaaaaacacactgc       c.*1380

          .         .         .         .         .         .       g.164328
 ttaacctattaaatatgtgtttagaattttataagcaaatataaatactgtaaaaagtca       c.*1440

          .         .         .         .         .         .       g.164388
 ctttattttatttttcagcattatgtacataaatatgaagaggaaattatcttcaggttg       c.*1500

          .         .         .         .         .         .       g.164448
 atatcacaatcacttttcttactttctgtccatagtactttttcatgaaagaaatttgct       c.*1560

          .         .         .         .         .         .       g.164508
 aaataagacatgaaaacaagactgggtagttgtagatttctgctttttaaattacatttg       c.*1620

          .         .         .         .         .         .       g.164568
 ctaattttagattatttcacaattttaaggagcaaaataggttcacgattcatatccaaa       c.*1680

          .         .         .         .         .         .       g.164628
 ttatgctttgcaattggaaaagggtttaaaattttatttatatttctggtagtacctgca       c.*1740

          .         .         .         .         .         .       g.164688
 ctaactgaattgaaggtagtgcttatgttatttttgttctttttttctgacttcggttta       c.*1800

          .         .         .         .         .         .       g.164748
 tgttttcatttctttggagtaatgctgctctagattgttctaaatagaatgtgggcttca       c.*1860

          .         .         .         .         .         .       g.164808
 taatttttttttccacaaaaacagagtagtcaacttatatagtcaattacatcaggacat       c.*1920

          .         .         .         .         .         .       g.164868
 tttgtgtttcttacagaagcaaaccataggctcctcttttccttaaaactacttagataa       c.*1980

          .         .         .         .         .         .       g.164928
 actgtattcgtgaactgcatgctggaaaatgctactattatgctaaataatgctaaccaa       c.*2040

          .         .         .         .                           g.164973
 catttaaaatgtgcaaaactaataaagattacattttttatttta                      c.*2085

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Sodium channel, voltage-gated, type I, alpha subunit protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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