sodium channel, voltage-gated, type V, alpha subunit (SCN5A) - coding DNA reference sequence

(used for variant description)

(last modified June 6, 2014)


This file was created to facilitate the description of sequence variants on transcript NM_198056.2 in the SCN5A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000003.11, covering SCN5A transcript NM_198056.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5015
                                               agacggcggcggcg       c.-181

 .         .         .         .         .         .                g.5075
 cccgtaggatgcagggatcgctcccccggggccgctgagcctgcgcccagtgccccgagc       c.-121

 .         .         .         .         .         .                g.5135
 cccgcgccgagccgagtccgcgccaagcagcagccgcccaccccggggcccggccggggg       c.-61

 .        | 02.         .         .         .         .             g.21366
 accagcag | cttccccacaggcaacgtgaggagagcctgtgcccagaagcaggatgagaag    c.-1

          .         .         .         .         .         .       g.21426
 ATGGCAAACTTCCTATTACCTCGGGGCACCAGCAGCTTCCGCAGGTTCACACGGGAGTCC       c.60
 M  A  N  F  L  L  P  R  G  T  S  S  F  R  R  F  T  R  E  S         p.20

          .         .         .         .         .         .       g.21486
 CTGGCAGCCATCGAGAAGCGCATGGCAGAGAAGCAAGCCCGCGGCTCAACCACCTTGCAG       c.120
 L  A  A  I  E  K  R  M  A  E  K  Q  A  R  G  S  T  T  L  Q         p.40

          .         .         .         .         .         .       g.21546
 GAGAGCCGAGAGGGGCTGCCCGAGGAGGAGGCTCCCCGGCCCCAGCTGGACCTGCAGGCC       c.180
 E  S  R  E  G  L  P  E  E  E  A  P  R  P  Q  L  D  L  Q  A         p.60

          .         .         .         .         .         .       g.21606
 TCCAAAAAGCTGCCAGATCTCTATGGCAATCCACCCCAAGAGCTCATCGGAGAGCCCCTG       c.240
 S  K  K  L  P  D  L  Y  G  N  P  P  Q  E  L  I  G  E  P  L         p.80

          .         .         .    | 03    .         .         .    g.24271
 GAGGACCTGGACCCCTTCTATAGCACCCAAAAG | ACTTTCATCGTACTGAATAAAGGCAAG    c.300
 E  D  L  D  P  F  Y  S  T  Q  K   | T  F  I  V  L  N  K  G  K      p.100

          .         .         .         .         .         .       g.24331
 ACCATCTTCCGGTTCAGTGCCACCAACGCCTTGTATGTCCTCAGTCCCTTCCACCCCATC       c.360
 T  I  F  R  F  S  A  T  N  A  L  Y  V  L  S  P  F  H  P  I         p.120

          .         .         .   | 04     .         .         .    g.32212
 CGGAGAGCGGCTGTGAAGATTCTGGTTCACTC | GCTCTTCAACATGCTCATCATGTGCACC    c.420
 R  R  A  A  V  K  I  L  V  H  S  |  L  F  N  M  L  I  M  C  T      p.140

          .         .         .         .         .         .       g.32272
 ATCCTCACCAACTGCGTGTTCATGGCCCAGCACGACCCTCCACCCTGGACCAAGTATGTC       c.480
 I  L  T  N  C  V  F  M  A  Q  H  D  P  P  P  W  T  K  Y  V         p.160

    | 05     .         .         .         .         .         .    g.33760
 GA | GTACACCTTCACCGCCATTTACACCTTTGAGTCTCTGGTCAAGATTCTGGCTCGAGGC    c.540
 E  |  Y  T  F  T  A  I  Y  T  F  E  S  L  V  K  I  L  A  R  G      p.180

          .         .         .         .         .         .       g.33820
 TTCTGCCTGCACGCGTTCACTTTCCTTCGGGACCCATGGAACTGGCTGGACTTTAGTGTG       c.600
 F  C  L  H  A  F  T  F  L  R  D  P  W  N  W  L  D  F  S  V         p.200

          .  | 06      .         .         .         .         .    g.40888
 ATTATCATGGC | ATACACAACTGAATTTGTGGACCTGGGCAATGTCTCAGCCTTACGCACC    c.660
 I  I  M  A  |  Y  T  T  E  F  V  D  L  G  N  V  S  A  L  R  T      p.220

          .         .         .         .    | 07    .         .    g.44726
 TTCCGAGTCCTCCGGGCCCTGAAAACTATATCAGTCATTTCAG | GGCTGAAGACCATCGTG    c.720
 F  R  V  L  R  A  L  K  T  I  S  V  I  S  G |   L  K  T  I  V      p.240

          .         .         .         .         .         .       g.44786
 GGGGCCCTGATCCAGTCTGTGAAGAAGCTGGCTGATGTGATGGTCCTCACAGTCTTCTGC       c.780
 G  A  L  I  Q  S  V  K  K  L  A  D  V  M  V  L  T  V  F  C         p.260

          .         .         .         .         .         .       g.44846
 CTCAGCGTCTTTGCCCTCATCGGCCTGCAGCTCTTCATGGGCAACCTAAGGCACAAGTGC       c.840
 L  S  V  F  A  L  I  G  L  Q  L  F  M  G  N  L  R  H  K  C         p.280

          .         .         .         .         .         .       g.44906
 GTGCGCAACTTCACAGCGCTCAACGGCACCAACGGCTCCGTGGAGGCCGACGGCTTGGTC       c.900
 V  R  N  F  T  A  L  N  G  T  N  G  S  V  E  A  D  G  L  V         p.300

          .         .         .     | 08   .         .         .    g.46485
 TGGGAATCCCTGGACCTTTACCTCAGTGATCCAG | AAAATTACCTGCTCAAGAACGGCACC    c.960
 W  E  S  L  D  L  Y  L  S  D  P  E |   N  Y  L  L  K  N  G  T      p.320

          .         .         .         | 09         .         .    g.47885
 TCTGATGTGTTACTGTGTGGGAACAGCTCTGACGCTGG | GACATGTCCGGAGGGCTACCGG    c.1020
 S  D  V  L  L  C  G  N  S  S  D  A  G  |  T  C  P  E  G  Y  R      p.340

          .         .         .         .         .         .       g.47945
 TGCCTAAAGGCAGGCGAGAACCCCGACCACGGCTACACCAGCTTCGATTCCTTTGCCTGG       c.1080
 C  L  K  A  G  E  N  P  D  H  G  Y  T  S  F  D  S  F  A  W         p.360

          .         .         .         .         .         .       g.48005
 GCCTTTCTTGCACTCTTCCGCCTGATGACGCAGGACTGCTGGGAGCGCCTCTATCAGCAG       c.1140
 A  F  L  A  L  F  R  L  M  T  Q  D  C  W  E  R  L  Y  Q  Q         p.380

  | 10       .         .         .         .         .         .    g.48585
  | ACCCTCAGGTCCGCAGGGAAGATCTACATGATCTTCTTCATGCTTGTCATCTTCCTGGGG    c.1200
  | T  L  R  S  A  G  K  I  Y  M  I  F  F  M  L  V  I  F  L  G      p.400

          .         .         .         .         .         .       g.48645
 TCCTTCTACCTGGTGAACCTGATCCTGGCCGTGGTCGCAATGGCCTATGAGGAGCAAAAC       c.1260
 S  F  Y  L  V  N  L  I  L  A  V  V  A  M  A  Y  E  E  Q  N         p.420

          .         .         .         .         .         .       g.48705
 CAAGCCACCATCGCTGAGACCGAGGAGAAGGAAAAGCGCTTCCAGGAGGCCATGGAAATG       c.1320
 Q  A  T  I  A  E  T  E  E  K  E  K  R  F  Q  E  A  M  E  M         p.440

          .         | 11         .         .         .         .    g.49807
 CTCAAGAAAGAACACGAG | GCCCTCACCATCAGGGGTGTGGATACCGTGTCCCGTAGCTCC    c.1380
 L  K  K  E  H  E   | A  L  T  I  R  G  V  D  T  V  S  R  S  S      p.460

          .         .         .         .         .         .       g.49867
 TTGGAGATGTCCCCTTTGGCCCCAGTAAACAGCCATGAGAGAAGAAGCAAGAGGAGAAAA       c.1440
 L  E  M  S  P  L  A  P  V  N  S  H  E  R  R  S  K  R  R  K         p.480

          .         .         .         .         .         .       g.49927
 CGGATGTCTTCAGGAACTGAGGAGTGTGGGGAGGACAGGCTCCCCAAGTCTGACTCAGAA       c.1500
 R  M  S  S  G  T  E  E  C  G  E  D  R  L  P  K  S  D  S  E         p.500

          .         | 12         .         .         .         .    g.50632
 GATGGTCCCAGAGCAATG | AATCATCTCAGCCTCACCCGTGGCCTCAGCAGGACTTCTATG    c.1560
 D  G  P  R  A  M   | N  H  L  S  L  T  R  G  L  S  R  T  S  M      p.520

          .         .         .         .         .         .       g.50692
 AAGCCACGTTCCAGCCGCGGGAGCATTTTCACCTTTCGCAGGCGAGACCTGGGTTCTGAA       c.1620
 K  P  R  S  S  R  G  S  I  F  T  F  R  R  R  D  L  G  S  E         p.540

          .         .         .         .         .         .       g.50752
 GCAGATTTTGCAGATGATGAAAACAGCACAGCGGGGGAGAGCGAGAGCCACCACACATCA       c.1680
 A  D  F  A  D  D  E  N  S  T  A  G  E  S  E  S  H  H  T  S         p.560

          .         .         .         .         .         .       g.50812
 CTGCTGGTGCCCTGGCCCCTGCGCCGGACCAGTGCCCAGGGACAGCCCAGTCCCGGAACC       c.1740
 L  L  V  P  W  P  L  R  R  T  S  A  Q  G  Q  P  S  P  G  T         p.580

          .         .         .         .         .         .       g.50872
 TCGGCTCCTGGCCACGCCCTCCATGGCAAAAAGAACAGCACTGTGGACTGCAATGGGGTG       c.1800
 S  A  P  G  H  A  L  H  G  K  K  N  S  T  V  D  C  N  G  V         p.600

          .         .         .         .         .         .       g.50932
 GTCTCATTACTGGGGGCAGGCGACCCAGAGGCCACATCCCCAGGAAGCCACCTCCTCCGC       c.1860
 V  S  L  L  G  A  G  D  P  E  A  T  S  P  G  S  H  L  L  R         p.620

          .         .         . | 13       .         .         .    g.55653
 CCTGTGATGCTAGAGCACCCGCCAGACACG | ACCACGCCATCGGAGGAGCCAGGCGGGCCC    c.1920
 P  V  M  L  E  H  P  P  D  T   | T  T  P  S  E  E  P  G  G  P      p.640

          .         .         .         .         .         .       g.55713
 CAGATGCTGACCTCCCAGGCTCCGTGTGTAGATGGCTTCGAGGAGCCAGGAGCACGGCAG       c.1980
 Q  M  L  T  S  Q  A  P  C  V  D  G  F  E  E  P  G  A  R  Q         p.660

          .         .         .         .    | 14    .         .    g.56723
 CGGGCCCTCAGCGCAGTCAGCGTCCTCACCAGCGCACTGGAAG | AGTTAGAGGAGTCTCGC    c.2040
 R  A  L  S  A  V  S  V  L  T  S  A  L  E  E |   L  E  E  S  R      p.680

          .         .         .         .         .         .       g.56783
 CACAAGTGTCCACCATGCTGGAACCGTCTCGCCCAGCGCTACCTGATCTGGGAGTGCTGC       c.2100
 H  K  C  P  P  C  W  N  R  L  A  Q  R  Y  L  I  W  E  C  C         p.700

          .         .         .         .         .         .       g.56843
 CCGCTGTGGATGTCCATCAAGCAGGGAGTGAAGTTGGTGGTCATGGACCCGTTTACTGAC       c.2160
 P  L  W  M  S  I  K  Q  G  V  K  L  V  V  M  D  P  F  T  D         p.720

          .         .         .         .         .         .       g.56903
 CTCACCATCACTATGTGCATCGTACTCAACACACTCTTCATGGCGCTGGAGCACTACAAC       c.2220
 L  T  I  T  M  C  I  V  L  N  T  L  F  M  A  L  E  H  Y  N         p.740

          .         .         .         .   | 15     .         .    g.67118
 ATGACAAGTGAATTCGAGGAGATGCTGCAGGTCGGAAACCTG | GTCTTCACAGGGATTTTC    c.2280
 M  T  S  E  F  E  E  M  L  Q  V  G  N  L   | V  F  T  G  I  F      p.760

          .         .         .         .         .         .       g.67178
 ACAGCAGAGATGACCTTCAAGATCATTGCCCTCGACCCCTACTACTACTTCCAACAGGGC       c.2340
 T  A  E  M  T  F  K  I  I  A  L  D  P  Y  Y  Y  F  Q  Q  G         p.780

          .         .         .         .         .         .       g.67238
 TGGAACATCTTCGACAGCATCATCGTCATCCTTAGCCTCATGGAGCTGGGCCTGTCCCGC       c.2400
 W  N  I  F  D  S  I  I  V  I  L  S  L  M  E  L  G  L  S  R         p.800

          .         .         .       | 16 .         .         .    g.68656
 ATGAGCAACTTGTCGGTGCTGCGCTCCTTCCGCCTG | CTGCGGGTCTTCAAGCTGGCCAAA    c.2460
 M  S  N  L  S  V  L  R  S  F  R  L   | L  R  V  F  K  L  A  K      p.820

          .         .         .         .         .         .       g.68716
 TCATGGCCCACCCTGAACACACTCATCAAGATCATCGGGAACTCAGTGGGGGCACTGGGG       c.2520
 S  W  P  T  L  N  T  L  I  K  I  I  G  N  S  V  G  A  L  G         p.840

          .         .         .         .         .         .       g.68776
 AACCTGACACTGGTGCTAGCCATCATCGTGTTCATCTTTGCTGTGGTGGGCATGCAGCTC       c.2580
 N  L  T  L  V  L  A  I  I  V  F  I  F  A  V  V  G  M  Q  L         p.860

          .         .         .         .         .         .       g.68836
 TTTGGCAAGAACTACTCGGAGCTGAGGGACAGCGACTCAGGCCTGCTGCCTCGCTGGCAC       c.2640
 F  G  K  N  Y  S  E  L  R  D  S  D  S  G  L  L  P  R  W  H         p.880

          .         .         .         .         .         .       g.68896
 ATGATGGACTTCTTTCATGCCTTCCTCATCATCTTCCGCATCCTCTGTGGAGAGTGGATC       c.2700
 M  M  D  F  F  H  A  F  L  I  I  F  R  I  L  C  G  E  W  I         p.900

          .         .         .         .         .         .       g.68956
 GAGACCATGTGGGACTGCATGGAGGTGTCGGGGCAGTCATTATGCCTGCTGGTCTTCTTG       c.2760
 E  T  M  W  D  C  M  E  V  S  G  Q  S  L  C  L  L  V  F  L         p.920

          .         .        | 17.         .         .         .    g.73335
 CTTGTTATGGTCATTGGCAACCTTGTG | GTCCTGAATCTCTTCCTGGCCTTGCTGCTCAGC    c.2820
 L  V  M  V  I  G  N  L  V   | V  L  N  L  F  L  A  L  L  L  S      p.940

          .         .         .         .         .         .       g.73395
 TCCTTCAGTGCAGACAACCTCACAGCCCCTGATGAGGACAGAGAGATGAACAACCTCCAG       c.2880
 S  F  S  A  D  N  L  T  A  P  D  E  D  R  E  M  N  N  L  Q         p.960

          .         .         .         .         .         .       g.73455
 CTGGCCCTGGCCCGCATCCAGAGGGGCCTGCGCTTTGTCAAGCGGACCACCTGGGATTTC       c.2940
 L  A  L  A  R  I  Q  R  G  L  R  F  V  K  R  T  T  W  D  F         p.980

          .         .         .         .         .         .       g.73515
 TGCTGTGGTCTCCTGCGGCAGCGGCCTCAGAAGCCCGCAGCCCTTGCCGCCCAGGGCCAG       c.3000
 C  C  G  L  L  R  Q  R  P  Q  K  P  A  A  L  A  A  Q  G  Q         p.1000

          .         .         .         .         .         .       g.73575
 CTGCCCAGCTGCATTGCCACCCCCTACTCCCCGCCACCCCCAGAGACGGAGAAGGTGCCT       c.3060
 L  P  S  C  I  A  T  P  Y  S  P  P  P  P  E  T  E  K  V  P         p.1020

          .         .         .         .         .         .       g.73635
 CCCACCCGCAAGGAAACACGGTTTGAGGAAGGCGAGCAACCAGGCCAGGGCACCCCCGGG       c.3120
 P  T  R  K  E  T  R  F  E  E  G  E  Q  P  G  Q  G  T  P  G         p.1040

          .         .         .         .         .         .       g.73695
 GATCCAGAGCCCGTGTGTGTGCCCATCGCTGTGGCCGAGTCAGACACAGATGACCAAGAA       c.3180
 D  P  E  P  V  C  V  P  I  A  V  A  E  S  D  T  D  D  Q  E         p.1060

          .         .         .         .         | 18         .    g.75190
 GAAGATGAGGAGAACAGCCTGGGCACGGAGGAGGAGTCCAGCAAGCAG | CAGGAATCCCAG    c.3240
 E  D  E  E  N  S  L  G  T  E  E  E  S  S  K  Q   | Q  E  S  Q      p.1080

          .         .         .         .         .         .       g.75250
 CCTGTGTCCGGTGGCCCAGAGGCCCCTCCGGATTCCAGGACCTGGAGCCAGGTGTCAGCG       c.3300
 P  V  S  G  G  P  E  A  P  P  D  S  R  T  W  S  Q  V  S  A         p.1100

          .         .         .         .         .         .       g.75310
 ACTGCCTCCTCTGAGGCCGAGGCCAGTGCATCTCAGGCCGACTGGCGGCAGCAGTGGAAA       c.3360
 T  A  S  S  E  A  E  A  S  A  S  Q  A  D  W  R  Q  Q  W  K         p.1120

          .         .         . | 19       .         .         .    g.77922
 GCGGAACCCCAGGCCCCAGGGTGCGGTGAG | ACCCCAGAGGACAGTTGCTCCGAGGGCAGC    c.3420
 A  E  P  Q  A  P  G  C  G  E   | T  P  E  D  S  C  S  E  G  S      p.1140

          .         .         .         .         .         .       g.77982
 ACAGCAGACATGACCAACACCGCTGAGCTCCTGGAGCAGATCCCTGACCTCGGCCAGGAT       c.3480
 T  A  D  M  T  N  T  A  E  L  L  E  Q  I  P  D  L  G  Q  D         p.1160

          .         .         .  | 20      .         .         .    g.79251
 GTCAAGGACCCAGAGGACTGCTTCACTGAAG | GCTGTGTCCGGCGCTGTCCCTGCTGTGCG    c.3540
 V  K  D  P  E  D  C  F  T  E  G |   C  V  R  R  C  P  C  C  A      p.1180

          .         .         .         .         .         .       g.79311
 GTGGACACCACACAGGCCCCAGGGAAGGTCTGGTGGCGGTTGCGCAAGACCTGCTACCAC       c.3600
 V  D  T  T  Q  A  P  G  K  V  W  W  R  L  R  K  T  C  Y  H         p.1200

          .         .         .         .         .         .       g.79371
 ATCGTGGAGCACAGCTGGTTCGAGACATTCATCATCTTCATGATCCTACTCAGCAGTGGA       c.3660
 I  V  E  H  S  W  F  E  T  F  I  I  F  M  I  L  L  S  S  G         p.1220

        | 21 .         .         .         .         .         .    g.88145
 GCGCTG | GCCTTCGAGGACATCTACCTAGAGGAGCGGAAGACCATCAAGGTTCTGCTTGAG    c.3720
 A  L   | A  F  E  D  I  Y  L  E  E  R  K  T  I  K  V  L  L  E      p.1240

          .         .         .         .         .         .       g.88205
 TATGCCGACAAGATGTTCACATATGTCTTCGTGCTGGAGATGCTGCTCAAGTGGGTGGCC       c.3780
 Y  A  D  K  M  F  T  Y  V  F  V  L  E  M  L  L  K  W  V  A         p.1260

          .         .         .         .         .         .       g.88265
 TACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC       c.3840
 Y  G  F  K  K  Y  F  T  N  A  W  C  W  L  D  F  L  I  V  D         p.1280

  | 22       .         .         .         .         .         .    g.92196
  | GTCTCTCTGGTCAGCCTGGTGGCCAACACCCTGGGCTTTGCCGAGATGGGCCCCATCAAG    c.3900
  | V  S  L  V  S  L  V  A  N  T  L  G  F  A  E  M  G  P  I  K      p.1300

          .         .         .         .         .         .       g.92256
 TCACTGCGGACGCTGCGTGCACTCCGTCCTCTGAGAGCTCTGTCACGATTTGAGGGCATG       c.3960
 S  L  R  T  L  R  A  L  R  P  L  R  A  L  S  R  F  E  G  M         p.1320

     | 23    .         .         .         .         .         .    g.94302
 AGG | GTGGTGGTCAATGCCCTGGTGGGCGCCATCCCGTCCATCATGAACGTCCTCCTCGTC    c.4020
 R   | V  V  V  N  A  L  V  G  A  I  P  S  I  M  N  V  L  L  V      p.1340

          .         .         .         .         .         .       g.94362
 TGCCTCATCTTCTGGCTCATCTTCAGCATCATGGGCGTGAACCTCTTTGCGGGGAAGTTT       c.4080
 C  L  I  F  W  L  I  F  S  I  M  G  V  N  L  F  A  G  K  F         p.1360

          .         .         .         .         .         .       g.94422
 GGGAGGTGCATCAACCAGACAGAGGGAGACTTGCCTTTGAACTACACCATCGTGAACAAC       c.4140
 G  R  C  I  N  Q  T  E  G  D  L  P  L  N  Y  T  I  V  N  N         p.1380

          .         .         .         .         .         .       g.94482
 AAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTC       c.4200
 K  S  Q  C  E  S  L  N  L  T  G  E  L  Y  W  T  K  V  K  V         p.1400

          .         .         .         .      | 24  .         .    g.97404
 AACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG | GCAACATTTAAAGGC    c.4260
 N  F  D  N  V  G  A  G  Y  L  A  L  L  Q  V   | A  T  F  K  G      p.1420

          .         .         .          | 25        .         .    g.98116
 TGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGGG | TATGAAGAGCAGCCTCAGTGG    c.4320
 W  M  D  I  M  Y  A  A  V  D  S  R  G   | Y  E  E  Q  P  Q  W      p.1440

          .         .         .         .         .         .       g.98176
 GAATACAACCTCTACATGTACATCTATTTTGTCATTTTCATCATCTTTGGGTCTTTCTTC       c.4380
 E  Y  N  L  Y  M  Y  I  Y  F  V  I  F  I  I  F  G  S  F  F         p.1460

          .         .         .         .         .        | 26.    g.98916
 ACCCTGAACCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG | TTA    c.4440
 T  L  N  L  F  I  G  V  I  I  D  N  F  N  Q  Q  K  K  K   | L      p.1480

          .         .         .         .         .         .       g.98976
 GGGGGCCAGGACATCTTCATGACAGAGGAGCAGAAGAAGTACTACAATGCCATGAAGAAG       c.4500
 G  G  Q  D  I  F  M  T  E  E  Q  K  K  Y  Y  N  A  M  K  K         p.1500

          .         .         .         .   | 27     .         .    g.100142
 CTGGGCTCCAAGAAGCCCCAGAAGCCCATCCCACGGCCCCTG | AACAAGTACCAGGGCTTC    c.4560
 L  G  S  K  K  P  Q  K  P  I  P  R  P  L   | N  K  Y  Q  G  F      p.1520

          .         .         .         .         .         .       g.100202
 ATATTCGACATTGTGACCAAGCAGGCCTTTGACGTCACCATCATGTTTCTGATCTGCTTG       c.4620
 I  F  D  I  V  T  K  Q  A  F  D  V  T  I  M  F  L  I  C  L         p.1540

          .         .         .         .         .         .       g.100262
 AATATGGTGACCATGATGGTGGAGACAGATGACCAAAGTCCTGAGAAAATCAACATCTTG       c.4680
 N  M  V  T  M  M  V  E  T  D  D  Q  S  P  E  K  I  N  I  L         p.1560

          .         .         .         .         .         .       g.100322
 GCCAAGATCAACCTGCTCTTTGTGGCCATCTTCACAGGCGAGTGTATTGTCAAGCTGGCT       c.4740
 A  K  I  N  L  L  F  V  A  I  F  T  G  E  C  I  V  K  L  A         p.1580

          .         .         .         .         .         .       g.100382
 GCCCTGCGCCACTACTACTTCACCAACAGCTGGAATATCTTCGACTTCGTGGTTGTCATC       c.4800
 A  L  R  H  Y  Y  F  T  N  S  W  N  I  F  D  F  V  V  V  I         p.1600

          .    | 28    .         .         .         .         .    g.103162
 CTCTCCATCGTGG | GCACTGTGCTCTCGGACATCATCCAGAAGTACTTCTTCTCCCCGACG    c.4860
 L  S  I  V  G |   T  V  L  S  D  I  I  Q  K  Y  F  F  S  P  T      p.1620

          .         .         .         .         .         .       g.103222
 CTCTTCCGAGTCATCCGCCTGGCCCGAATAGGCCGCATCCTCAGACTGATCCGAGGGGCC       c.4920
 L  F  R  V  I  R  L  A  R  I  G  R  I  L  R  L  I  R  G  A         p.1640

          .         .         .         .         .         .       g.103282
 AAGGGGATCCGCACGCTGCTCTTTGCCCTCATGATGTCCCTGCCTGCCCTCTTCAACATC       c.4980
 K  G  I  R  T  L  L  F  A  L  M  M  S  L  P  A  L  F  N  I         p.1660

          .         .         .         .         .         .       g.103342
 GGGCTGCTGCTCTTCCTCGTCATGTTCATCTACTCCATCTTTGGCATGGCCAACTTCGCT       c.5040
 G  L  L  L  F  L  V  M  F  I  Y  S  I  F  G  M  A  N  F  A         p.1680

          .         .         .         .         .         .       g.103402
 TATGTCAAGTGGGAGGCTGGCATCGACGACATGTTCAACTTCCAGACCTTCGCCAACAGC       c.5100
 Y  V  K  W  E  A  G  I  D  D  M  F  N  F  Q  T  F  A  N  S         p.1700

          .         .         .         .         .         .       g.103462
 ATGCTGTGCCTCTTCCAGATCACCACGTCGGCCGGCTGGGATGGCCTCCTCAGCCCCATC       c.5160
 M  L  C  L  F  Q  I  T  T  S  A  G  W  D  G  L  L  S  P  I         p.1720

          .         .         .         .         .         .       g.103522
 CTCAACACTGGGCCGCCCTACTGCGACCCCACTCTGCCCAACAGCAATGGCTCTCGGGGG       c.5220
 L  N  T  G  P  P  Y  C  D  P  T  L  P  N  S  N  G  S  R  G         p.1740

          .         .         .         .         .         .       g.103582
 GACTGCGGGAGCCCAGCCGTGGGCATCCTCTTCTTCACCACCTACATCATCATCTCCTTC       c.5280
 D  C  G  S  P  A  V  G  I  L  F  F  T  T  Y  I  I  I  S  F         p.1760

          .         .         .         .         .         .       g.103642
 CTCATCGTGGTCAACATGTACATTGCCATCATCCTGGAGAACTTCAGCGTGGCCACGGAG       c.5340
 L  I  V  V  N  M  Y  I  A  I  I  L  E  N  F  S  V  A  T  E         p.1780

          .         .         .         .         .         .       g.103702
 GAGAGCACCGAGCCCCTGAGTGAGGACGACTTCGATATGTTCTATGAGATCTGGGAGAAA       c.5400
 E  S  T  E  P  L  S  E  D  D  F  D  M  F  Y  E  I  W  E  K         p.1800

          .         .         .         .         .         .       g.103762
 TTTGACCCAGAGGCCACTCAGTTTATTGAGTATTCGGTCCTGTCTGACTTTGCCGATGCC       c.5460
 F  D  P  E  A  T  Q  F  I  E  Y  S  V  L  S  D  F  A  D  A         p.1820

          .         .         .         .         .         .       g.103822
 CTGTCTGAGCCACTCCGTATCGCCAAGCCCAACCAGATAAGCCTCATCAACATGGACCTG       c.5520
 L  S  E  P  L  R  I  A  K  P  N  Q  I  S  L  I  N  M  D  L         p.1840

          .         .         .         .         .         .       g.103882
 CCCATGGTGAGTGGGGACCGCATCCATTGCATGGACATTCTCTTTGCCTTCACCAAAAGG       c.5580
 P  M  V  S  G  D  R  I  H  C  M  D  I  L  F  A  F  T  K  R         p.1860

          .         .         .         .         .         .       g.103942
 GTCCTGGGGGAGTCTGGGGAGATGGACGCCCTGAAGATCCAGATGGAGGAGAAGTTCATG       c.5640
 V  L  G  E  S  G  E  M  D  A  L  K  I  Q  M  E  E  K  F  M         p.1880

          .         .         .         .         .         .       g.104002
 GCAGCCAACCCATCCAAGATCTCCTACGAGCCCATCACCACCACACTCCGGCGCAAGCAC       c.5700
 A  A  N  P  S  K  I  S  Y  E  P  I  T  T  T  L  R  R  K  H         p.1900

          .         .         .         .         .         .       g.104062
 GAAGAGGTGTCGGCCATGGTTATCCAGAGAGCCTTCCGCAGGCACCTGCTGCAACGCTCT       c.5760
 E  E  V  S  A  M  V  I  Q  R  A  F  R  R  H  L  L  Q  R  S         p.1920

          .         .         .         .         .         .       g.104122
 TTGAAGCATGCCTCCTTCCTCTTCCGTCAGCAGGCGGGCAGCGGCCTCTCCGAAGAGGAT       c.5820
 L  K  H  A  S  F  L  F  R  Q  Q  A  G  S  G  L  S  E  E  D         p.1940

          .         .         .         .         .         .       g.104182
 GCCCCTGAGCGAGAGGGCCTCATCGCCTACGTGATGAGTGAGAACTTCTCCCGACCCCTT       c.5880
 A  P  E  R  E  G  L  I  A  Y  V  M  S  E  N  F  S  R  P  L         p.1960

          .         .         .         .         .         .       g.104242
 GGCCCACCCTCCAGCTCCTCCATCTCCTCCACTTCCTTCCCACCCTCCTATGACAGTGTC       c.5940
 G  P  P  S  S  S  S  I  S  S  T  S  F  P  P  S  Y  D  S  V         p.1980

          .         .         .         .         .         .       g.104302
 ACTAGAGCCACCAGCGATAACCTCCAGGTGCGGGGGTCTGACTACAGCCACAGTGAAGAT       c.6000
 T  R  A  T  S  D  N  L  Q  V  R  G  S  D  Y  S  H  S  E  D         p.2000

          .         .         .         .         .                 g.104353
 CTCGCCGACTTCCCCCCTTCTCCGGACAGGGACCGTGAGTCCATCGTGTGA                c.6051
 L  A  D  F  P  P  S  P  D  R  D  R  E  S  I  V  X                  p.2016

          .         .         .         .         .         .       g.104413
 gcctcggcctggctggccaggacacactgaaaagcagcctttttcaccatggcaaaccta       c.*60

          .         .         .         .         .         .       g.104473
 aatgcagtcagtcacaaaccagcctggggccttcctggctttgggagtaagaaatgggcc       c.*120

          .         .         .         .         .         .       g.104533
 tcagccccgcggatcaaccaggcagagttctgtggcgccgcgtggacagccggagcagtt       c.*180

          .         .         .         .         .         .       g.104593
 ggcctgtgcttggaggcctcagatagacctgtgacctggtctggtcaggcaatgccctgc       c.*240

          .         .         .         .         .         .       g.104653
 ggctctggaaagcaacttcatcccagctgctgaggcgaaatataaaactgagactgtata       c.*300

          .         .         .         .         .         .       g.104713
 tgttgtgaatgggctttcataaatttattatatttgatatttttttacttgagcaaagaa       c.*360

          .         .         .         .         .         .       g.104773
 ctaaggatttttccatggacatgggcagcaattcacgctgtctcttcttaaccctgaaca       c.*420

          .         .         .         .         .         .       g.104833
 agagtgtctatggagcagccggaagtctgttctcaaagcagaagtggaatccagtgtggc       c.*480

          .         .         .         .         .         .       g.104893
 tcccacaggtcttcactgcccaggggtcgaatggggtccccctcccacttgacctgagat       c.*540

          .         .         .         .         .         .       g.104953
 gctgggagggctgaacccccactcacacaagcacacacacacagtcctcacacacggagg       c.*600

          .         .         .         .         .         .       g.105013
 ccagacacaggccgtgggacccaggctcccagcctaagggagacaggcctttccctgccg       c.*660

          .         .         .         .         .         .       g.105073
 gccccccaaggatggggttcttgtccacggggctcactctggccccctattgtctccaag       c.*720

          .         .         .         .         .         .       g.105133
 gtcccattttccccctgtgttttcacgcaggtcatattgtcagtcctacaaaaataaaag       c.*780

          .         .         .         .         .         .       g.105193
 gcttccagaggagagtggcctgggtcccagggctggccctaggcactgatagttgccttt       c.*840

          .         .         .         .         .         .       g.105253
 tcttcccctcctgtaagagtattaacaaaaccaaaggacacaagggtgcaagccccattc       c.*900

          .         .         .         .         .         .       g.105313
 acggcctggcatgcagcttgtccttgctcctggaacctggcaggccctgcccagccagcc       c.*960

          .         .         .         .         .         .       g.105373
 atcggaagagagggctgagccatgggggtttggggctaagaagttcaccagccctgagcc       c.*1020

          .         .         .         .         .         .       g.105433
 atggcggcccctcagcctgcctgaagagaggaaactggcgatctcccagggctctctgga       c.*1080

          .         .         .         .         .         .       g.105493
 ccatacgcggaggagttttctgtgtggtctccagctcctctccagacacagagacatggg       c.*1140

          .         .         .         .         .         .       g.105553
 agtggggagcggagcttggccctgcgccctgtgcagggaaagggatggtcaggcccagtt       c.*1200

          .         .         .         .         .         .       g.105613
 ctcgtgcccttagaggggaatgaaccatggcacctttgagagagggggcactgtggtcag       c.*1260

          .         .         .         .         .         .       g.105673
 gcccagcctctctggctcagcccgggatcctgatggcacccacacagaggacctctttgg       c.*1320

          .         .         .         .         .         .       g.105733
 ggcaagatccaggtggtcccataggtcttgtgaaaaggctttttcagggaaaaatatttt       c.*1380

          .         .         .         .         .         .       g.105793
 actagtccaatcacccccaggacctcttcagctgctgacaatcctatttagcatatgcaa       c.*1440

          .         .         .         .         .         .       g.105853
 atcttttaacatagagaactgtcaccctgaggtaacagggtcaactggcgaagcctgagc       c.*1500

          .         .         .         .         .         .       g.105913
 aggcaggggcttggctgccccattccagctctcccatggagcccctccaccgggcgcatg       c.*1560

          .         .         .         .         .         .       g.105973
 cctcccaggccacctcagtctcacctgccggctctgggctggctgctcctaacctacctc       c.*1620

          .         .         .         .         .         .       g.106033
 gccgagctgtcggagggctggacatttgtggcagtgctgaagggggcattgccggcgagt       c.*1680

          .         .         .         .         .         .       g.106093
 aaagtattatgtttcttcttgtcaccccagttcccttggtggcaaccccagacccaaccc       c.*1740

          .         .         .         .         .         .       g.106153
 atgcccctgacagatctagttctcttctcctgtgttccctttgagtccagtgtgggacac       c.*1800

          .         .         .         .         .         .       g.106213
 ggtttaactgtcccagcgacatttctccaagtggaaatcctatttttgtagatctccatg       c.*1860

          .         .         .         .         .         .       g.106273
 ctttgctctcaaggcttggagaggtatgtgcccctcctgggtgctcaccgcctgctacac       c.*1920

          .         .         .         .         .         .       g.106333
 aggcaggaatgcggttgggaggcaggtcgggctgccagcccagctggccggaaggagact       c.*1980

          .         .         .         .         .         .       g.106393
 gtggtttttgtgtgtgtggacagcccgggagctttgagacaggtgcctggggctggctgc       c.*2040

          .         .         .         .         .         .       g.106453
 agacggtgtggttgggggtgggaggtgagctagacccaacccttagcttttagcctggct       c.*2100

          .         .         .         .         .         .       g.106513
 gtcacctttttaatttccagaactgcacaatgaccagcaggagggaaggacagacatcaa       c.*2160

          .         .         .         .         .         .       g.106573
 gtgccagatgttgtctgaactaatcgagcacttctcaccaaacttcatgtataaataaaa       c.*2220

          .         .         .                                     g.106612
 tacatatttttaaaacaaaccaataaatggcttacatga                            c.*2259

 (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 V, 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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