sodium channel, voltage-gated, type II, beta subunit (SCN2B) - coding DNA reference sequence

(used for variant description)

(last modified March 12, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_004588.4 in the SCN2B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering SCN2B transcript NM_004588.4.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5011
                                                  ctctttttagc       c.-181

 .         .         .         .         .         .                g.5071
 agcaacatacaagccggccatattagagagatggaaataaagcttccttaatgttgtata       c.-121

 .         .         .         .         .         .                g.5131
 tgtctttgaagtacatccgtgcatttttttttagcatccaaccattcctcccttgtagtt       c.-61

 .         .         .         .         .         .                g.5191
 ctcgccccctcaaatcaccctctcccgtagcccacccgactaacatctcagtctctgaaa       c.-1

          .         .         .         .         .         .       g.5251
 ATGCACAGAGATGCCTGGCTACCTCGCCCTGCCTTCAGCCTCACGGGGCTCAGTCTCTTT       c.60
 M  H  R  D  A  W  L  P  R  P  A  F  S  L  T  G  L  S  L  F         p.20

          . | 02       .         .         .         .         .    g.12921
 TTCTCTTTGG | TGCCACCAGGACGGAGCATGGAGGTCACAGTACCTGCCACCCTCAACGTC    c.120
 F  S  L  V |   P  P  G  R  S  M  E  V  T  V  P  A  T  L  N  V      p.40

          .         .         .         .         .         .       g.12981
 CTCAATGGCTCTGACGCCCGCCTGCCCTGCACCTTCAACTCCTGCTACACAGTGAACCAC       c.180
 L  N  G  S  D  A  R  L  P  C  T  F  N  S  C  Y  T  V  N  H         p.60

          .         .         .         .         .        | 03.    g.13330
 AAACAGTTCTCCCTGAACTGGACTTACCAGGAGTGCAACAACTGCTCTGAGGAGATG | TTC    c.240
 K  Q  F  S  L  N  W  T  Y  Q  E  C  N  N  C  S  E  E  M   | F      p.80

          .         .         .         .         .         .       g.13390
 CTCCAGTTCCGCATGAAGATCATTAACCTGAAGCTGGAGCGGTTTCAAGACCGCGTGGAG       c.300
 L  Q  F  R  M  K  I  I  N  L  K  L  E  R  F  Q  D  R  V  E         p.100

          .         .         .         .         .         .       g.13450
 TTCTCAGGGAACCCCAGCAAGTACGATGTGTCGGTGATGCTGAGAAACGTGCAGCCGGAG       c.360
 F  S  G  N  P  S  K  Y  D  V  S  V  M  L  R  N  V  Q  P  E         p.120

          .         .         .         .         .         .       g.13510
 GATGAGGGGATTTACAACTGCTACATCATGAACCCCCCTGACCGCCACCGTGGCCATGGC       c.420
 D  E  G  I  Y  N  C  Y  I  M  N  P  P  D  R  H  R  G  H  G         p.140

          .         .         | 04         .         .         .    g.14568
 AAGATCCATCTGCAGGTCCTCATGGAAG | AGCCCCCTGAGCGGGACTCCACGGTGGCCGTG    c.480
 K  I  H  L  Q  V  L  M  E  E |   P  P  E  R  D  S  T  V  A  V      p.160

          .         .         .         .         .         .       g.14628
 ATTGTGGGTGCCTCCGTCGGGGGCTTCCTGGCTGTGGTCATCTTGGTGCTGATGGTGGTC       c.540
 I  V  G  A  S  V  G  G  F  L  A  V  V  I  L  V  L  M  V  V         p.180

          .         .         .         .         .         .       g.14688
 AAGTGTGTGAGGAGAAAAAAAGAGCAGAAGCTGAGCACAGATGACCTGAAGACCGAGGAG       c.600
 K  C  V  R  R  K  K  E  Q  K  L  S  T  D  D  L  K  T  E  E         p.200

          .         .         .         .                           g.14736
 GAGGGCAAGACGGACGGTGAAGGCAACCCGGATGATGGCGCCAAGTAG                   c.648
 E  G  K  T  D  G  E  G  N  P  D  D  G  A  K  X                     p.215

          .         .         .         .         .         .       g.14796
 tgggtggccggccctgcagcctcccgtgtcccgtctcctcccctctccgccctgtacagt       c.*60

          .         .         .         .         .         .       g.14856
 gaccctgcctgctcgctcttggtgtgcttcccgtgacctaggaccccagggcccacctgg       c.*120

          .         .         .         .         .         .       g.14916
 ggcctcctgaacccccgacttcgtatctcccaccctgcaccaagagtgacccactctctt       c.*180

          .         .         .         .         .         .       g.14976
 ccatccgagaaacctgccatgctctgggacgtgtgggccctggggagaggagagaaaggg       c.*240

          .         .         .         .         .         .       g.15036
 ctcccacctgccagtccctggggggaggcaggaggcacatgtgagggtccccagagagaa       c.*300

          .         .         .         .         .         .       g.15096
 gggagtgggtgggcaggggtagaggagggggccgctgtccacctgcccagtgcttggcct       c.*360

          .         .         .         .         .         .       g.15156
 ggcagtggcttcagagaggacctggtggggagggagggctttcctgtgctgacagcgctc       c.*420

          .         .         .         .         .         .       g.15216
 cctcaggagggccttggcctggcacggctgtgctcctcccctgctcccagcccagagcag       c.*480

          .         .         .         .         .         .       g.15276
 ccatcaggctggaggtgacgatgagttcctgaaacttggaggggcatgttaaagggatga       c.*540

          .         .         .         .         .         .       g.15336
 ctgtgcattccagggcactgacggaaagccagggctgcaggcaaagctggacatgtgccc       c.*600

          .         .         .         .         .         .       g.15396
 tggcccaggaggccatgttgggccctcgtttccattgctagtggcctccttggggctccc       c.*660

          .         .         .         .         .         .       g.15456
 gttggctcctaatcccttaggactgtggatgaggccagactggaagagcagctccaggta       c.*720

          .         .         .         .         .         .       g.15516
 gggggccatgtttcccagcggggacccaccaacagaggccagtttcaaagtcagctgagg       c.*780

          .         .         .         .         .         .       g.15576
 ggctgaggggtggggctccatggtgaatgcaggttgctgcaggctctgccttctccatgg       c.*840

          .         .         .         .         .         .       g.15636
 ggtaaccaccctcgcctgggcaggggcagccaaggctgggaaatgaggaggccatgcaca       c.*900

          .         .         .         .         .         .       g.15696
 gggtggggcagctttctttggggcttcagtgagaactctcccagttgcccttggtggggt       c.*960

          .         .         .         .         .         .       g.15756
 ttccacctggcttttggctacagagagggaagggaaagcctgaggccggcataaggggag       c.*1020

          .         .         .         .         .         .       g.15816
 gccttggaacctgagctgccaatgccagccctgtcccatctgcagccacactactcgctc       c.*1080

          .         .         .         .         .         .       g.15876
 ctctcccaacaactcccttcgtggggacaaaagtgacaattgtaggccaggcacagtggc       c.*1140

          .         .         .         .         .         .       g.15936
 tcacgcctgtaatcccagcactttgggaggccaaggcgggtggattacctccatctgttt       c.*1200

          .         .         .         .         .         .       g.15996
 agtagaaatgggcaaaaccccatctctactaaaaatacaagaattagctgggcgtggtgg       c.*1260

          .         .         .         .         .         .       g.16056
 cgtgtgcctgtaatcccagctatttgggaggctgaggcaggagaatcgcttgagcccggg       c.*1320

          .         .         .         .         .         .       g.16116
 aagcagaggttgcagtgaactgagatagtgatagtgccactgcaattcagcctgggtgac       c.*1380

          .         .         .         .         .         .       g.16176
 atagagagactccatctcaaaaaaaaaaaaaaaaaaaaaaaaaggcaattgtgcggagcc       c.*1440

          .         .         .         .         .         .       g.16236
 aaccatcactgccattacactcacattcaatggaaattgattaggcctgagagaaggagc       c.*1500

          .         .         .         .         .         .       g.16296
 aagaggcagaaacactgactctgagaccatgaccttggaagatcctcagagatcaactag       c.*1560

          .         .         .         .         .         .       g.16356
 ccaagtcactcacttaaaatggggaaactgaggttccaactgacagaaactgagggtcct       c.*1620

          .         .         .         .         .         .       g.16416
 gccctcttctctggctcctcagtctccagtttgaagcaacagagccatcattttcccagt       c.*1680

          .         .         .         .         .         .       g.16476
 gggaggggcctctgtgtcctggtctatgatggggcgagttggaggggtgggcttctctag       c.*1740

          .         .         .         .         .         .       g.16536
 ccctgccccctcccaggagcccagcccctctggccaggactgaggaggagtggagggaag       c.*1800

          .         .         .         .         .         .       g.16596
 cagggagggagggagcaagtgtgaagggcacagctgctggcaaatgccccattccctgcc       c.*1860

          .         .         .         .         .         .       g.16656
 ccagcacttcccagcctttccaggagctctgccccacccctactcaaggagtcaggtgcc       c.*1920

          .         .         .         .         .         .       g.16716
 cagggtagggaataagtctaggaaagggggtggagacaggaccgtgacagtctcagggac       c.*1980

          .         .         .         .         .         .       g.16776
 caatccctgcctctgcccatcagattgccaatttggggagacagcaatatcatctgggag       c.*2040

          .         .         .         .         .         .       g.16836
 attcagcttaatttgcttcaattcagcaaccatttattgagcatctattatgtgccaggc       c.*2100

          .         .         .         .         .         .       g.16896
 actgtgccgggcactggggatatacacaaagccataagcactggggactgccaggttggc       c.*2160

          .         .         .         .         .         .       g.16956
 actgtagggaccaagattaactttttggtgcatctaattccacctctgcaagacactgct       c.*2220

          .         .         .         .         .         .       g.17016
 tccaaggctacagttggggaagatgaagagattctagaatctgtgccctgggaagggaga       c.*2280

          .         .         .         .         .         .       g.17076
 aacagcagggaagaggggcaatacaacagggtcaagggtgcagaggccaggcagagtggg       c.*2340

          .         .         .         .         .         .       g.17136
 tgcagagtgggggatgggcaaccagcctggtaacacctgggtgaggtgagcgagtcaagc       c.*2400

          .         .         .         .         .         .       g.17196
 ccatctggaaatgctaaactcatcagctcagtacctaactgccaatcaacacactgccaa       c.*2460

          .         .         .         .         .         .       g.17256
 tgcgggtgggctaagccgccaggatgcctgcagcagatggacgctgcccatccttgagcc       c.*2520

          .         .         .         .         .         .       g.17316
 agccagctgggggcagagaggtgggtggcgggcacctcatgccagctgagaccaagagtg       c.*2580

          .         .         .         .         .         .       g.17376
 gttgtatacatttctgcagcttgcagatttcatttttttggtcaccctttaagtgtcctt       c.*2640

          .         .         .         .         .         .       g.17436
 ctctcccaggatgagtgaggagctgtgctgatgttgggaacttatctttttccaggatcc       c.*2700

          .         .         .         .         .         .       g.17496
 ataacatttaggggaattatttgcgggctttcctagtgtattctaagaagttctaactct       c.*2760

          .         .         .         .         .         .       g.17556
 ccatcaagaagcccaagattcctggagtctttttttcctctgccctgatcaactggggcc       c.*2820

          .         .         .         .         .         .       g.17616
 caggaaaagcaatgtctcttcacgggcctcagggccccagcagatggggctgggtcagga       c.*2880

          .         .         .         .         .         .       g.17676
 accatctctgtcccaggtgctcagccctcatatgcattttcttctggagcctcttagaat       c.*2940

          .         .         .         .         .         .       g.17736
 ctcctccagaggactcatagagctgcctcccccaggatggtgaagttgggagcaaaatgg       c.*3000

          .         .         .         .         .         .       g.17796
 ggcttctgtaagtagaggtggaaaaccagagagatgtttccacagcagccatttccctac       c.*3060

          .         .         .         .         .         .       g.17856
 cctgtttcctaacttatgctgacaagttcttcctcttcctaccgtggggttcgagcccca       c.*3120

          .         .         .         .         .         .       g.17916
 cttctggttgcatgttcccaccaccacgctctgctggttttagtcggctgactttctcaa       c.*3180

          .         .         .         .         .         .       g.17976
 ctgccccagcctctcctgctctctcagaacctccctctgcccccaccccccatctgtctc       c.*3240

          .         .         .         .         .         .       g.18036
 ttcctcctaattaagggccactgcaaagagagacgggctggctaacccatgggatttagc       c.*3300

          .         .         .         .         .         .       g.18096
 ttataagaacaaagcacaattattcaggactgaactgctttgaggtgccttggaactggc       c.*3360

          .         .         .         .         .         .       g.18156
 tttggaaatagctatctgccccctagctatggactcttcacagttatttccagtttataa       c.*3420

          .         .         .         .         .         .       g.18216
 aaaggaaaagctgatcggatccatgtttctctctgcgagtctccttggggaggttgggct       c.*3480

          .         .         .         .         .         .       g.18276
 ggtaaatatttgcaaggtcaggttaagcagacagacaattgaaaatactgggcaggtcca       c.*3540

          .         .         .         .         .         .       g.18336
 aaaggatagttccaggccataggaatggcttggtgcagttaacgggtgatgaagcaagaa       c.*3600

          .         .         .         .         .         .       g.18396
 atcttccttcctacttatgtcttaaagatggacagcctgtgtctcttgctgtgcctcttg       c.*3660

          .         .         .         .         .         .       g.18456
 ctggcgtcttcctttattgaagcttgctgatgcactgtacatagtctctctctctaggta       c.*3720

          .         .         .         .         .         .       g.18516
 tagatatattatatatacaaatatcaaacatctcaccacacccaccccaaaagttacact       c.*3780

          .         .         .         .         .         .       g.18576
 gtgtgtgtgtggggaggtgtaataacttctcagtgttttgagttgattcaccaaaggcaa       c.*3840

          .         .         .         .         .         .       g.18636
 attttggaatgttcttgcgctttgtgcacttggaggggaaaacccaactacatatgcact       c.*3900

          .         .         .         .         .         .       g.18696
 ttcttggttgtgtgtgctatagagaggttggaaggggtggttggaaggggagagaaactg       c.*3960

          .         .         .         .         .         .       g.18756
 agatggccctctgtgactcgactgctgggatgtatctgcttttgggagcagactgagttt       c.*4020

          .         .         .         .         .         .       g.18816
 cttttgcaatttgtcttattgtttgggtctactggcaacaataaactatctcccctgaaa       c.*4080

                                                                    g.18819
 atc                                                                c.*4083

 (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 II, 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.