sodium channel, voltage-gated, type I, beta subunit (SCN1B) - coding DNA reference sequence

(used for variant description)

(last modified October 11, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_199037.3 in the SCN1B gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000019.9, covering SCN1B transcript NM_199037.3.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                                                   .                g.5013
                                                ccggtcccagagc       c.-121

 .         .         .         .         .         .                g.5073
 cgcagctgctgcgcccgcgcgctcccggggacattctaaccgccgccaggtcccgccgcc       c.-61

 .         .         .         .         .         .                g.5133
 tctcgccccgctattaataccggcggcccgggaggggggcgcagcacgcgccgcgcagcc       c.-1

          .         .         .         . | 02       .         .    g.6860
 ATGGGGAGGCTGCTGGCCTTAGTGGTCGGCGCGGCACTGG | TGTCCTCAGCCTGCGGGGGC    c.60
 M  G  R  L  L  A  L  V  V  G  A  A  L  V |   S  S  A  C  G  G      p.20

          .         .         .         .         .         .       g.6920
 TGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACCTTCAAAATTCTTTGC       c.120
 C  V  E  V  D  S  E  T  E  A  V  Y  G  M  T  F  K  I  L  C         p.40

          .         .         .         .         .         .       g.6980
 ATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGC       c.180
 I  S  C  K  R  R  S  E  T  N  A  E  T  F  T  E  W  T  F  R         p.60

          .         .        | 03.         .         .         .    g.7844
 CAGAAGGGCACTGAGGAGTTTGTCAAG | ATCCTGCGCTATGAGAATGAGGTGTTGCAGCTG    c.240
 Q  K  G  T  E  E  F  V  K   | I  L  R  Y  E  N  E  V  L  Q  L      p.80

          .         .         .         .         .         .       g.7904
 GAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGAC       c.300
 E  E  D  E  R  F  E  G  R  V  V  W  N  G  S  R  G  T  K  D         p.100

          .         .         .         .         .         .       g.7964
 CTGCAGGATCTGTCTATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAG       c.360
 L  Q  D  L  S  I  F  I  T  N  V  T  Y  N  H  S  G  D  Y  E         p.120

          .         .         .         .         .         .       g.8024
 TGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAG       c.420
 C  H  V  Y  R  L  L  F  F  E  N  Y  E  H  N  T  S  V  V  K         p.140

          .         .         .         .         .         .       g.8084
 AAGATCCACATTGAGGTAGTGGACAAAGGTGAGTCGGGTGCTGCCTGCCCCTTTACCGTC       c.480
 K  I  H  I  E  V  V  D  K  G  E  S  G  A  A  C  P  F  T  V         p.160

          .         .         .         .         .         .       g.8144
 ACCCACCGGAGAGCCAGATGGAGGGACAGATGGCAGGCAGTGGACAGGACAGGCTGGCTC       c.540
 T  H  R  R  A  R  W  R  D  R  W  Q  A  V  D  R  T  G  W  L         p.180

          .         .         .         .         .         .       g.8204
 TGTGCCTGGCCAGCCAACCGCCCACAGCAGCGGGCTGAGGGGGAGGGGAGCAGCCCCTCC       c.600
 C  A  W  P  A  N  R  P  Q  Q  R  A  E  G  E  G  S  S  P  S         p.200

          .         .         .         .         .         .       g.8264
 TGCCCACTCCAGCTCTGGCCTCTGTTTCTCTCCAGCCCACGGAGAGGTCAAAGCATGCCT       c.660
 C  P  L  Q  L  W  P  L  F  L  S  S  P  R  R  G  Q  S  M  P         p.220

          .         .         .         .         .         .       g.8324
 GTCCCCCACAGACGCTCCGGGTACAGAACCCAGCTCTGTCACCTGTGCTGTATGACCTCT       c.720
 V  P  H  R  R  S  G  Y  R  T  Q  L  C  H  L  C  C  M  T  S         p.240

          .         .         .         .         .         .       g.8384
 GGCAGGTGCCTTCTGTCTCTGAGCCAAAGGGTTGTCCTGGGCTTGCCCGGGATAATAATC       c.780
 G  R  C  L  L  S  L  S  Q  R  V  V  L  G  L  P  G  I  I  I         p.260

          .         .                                               g.8411
 CGATGTGTTTCTCGGGGTGTGGTTTGA                                        c.807
 R  C  V  S  R  G  V  V  X                                          p.268

          .         .         .         .         .         .       g.8471
 gccattcttccatcatggggttcatgaggattgagcagctgcaggcacacgcctggcttc       c.*60

          .         .         .         .         .         .       g.8531
 cagcagagccttgcaggtggtggcgagggtggcggttcttactgttcgagtagctcagcc       c.*120

          .         .         .         .         .                 g.8583
 ctgctgccctctgtggtgatgaggcaagagagcgtgccacctagagcagagt               c.*172

 (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 10^th nucleotide is indicated by a "." above the sequence. The Sodium channel, voltage-gated, type I, beta 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 10^th 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.