paired box 3 (PAX3) - coding DNA reference sequence

(used for variant description)

(last modified March 6, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_181457.3 in the PAX3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011632.1, covering PAX3 transcript NM_181457.3.

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

 (upstream sequence)
                                         .         .                g.5006
                                        actcggtgtcaccacaggagg       c.-361

 .         .         .         .         .         .                g.5066
 agactcaggcaggccgcgctccagcctcaccaggctccccggctcgccgtggctctctga       c.-301

 .         .         .         .         .         .                g.5126
 gcccccttttcagggaccccagtcgctggaacatttgcccagactcgtaccaaacttttc       c.-241

 .         .         .         .         .         .                g.5186
 cgccctgggctcgggatcctggactccggggcctccccgtcctcccctttcccgggttcc       c.-181

 .         .         .         .         .         .                g.5246
 agctccggcctctggactaggaaccgacagcccccctccccgcgtccctccctctctctc       c.-121

 .         .         .         .         .         .                g.5306
 cagccgttttggggaggggctctccacgctccggatagttcccgagggtcatccgcgccg       c.-61

 .         .         .         .         .         .                g.5366
 cactcgcctttccgtttcgccttcacctggatataatttccgagcgaagctgcccccagg       c.-1

          .         .         .         .         .         .       g.5426
 ATGACCACGCTGGCCGGCGCTGTGCCCAGGATGATGCGGCCGGGCCCGGGGCAGAACTAC       c.60
 M  T  T  L  A  G  A  V  P  R  M  M  R  P  G  P  G  Q  N  Y         p.20

          .         .      | 02  .         .         .         .    g.6803
 CCGCGTAGCGGGTTCCCGCTGGAAG | TGTCCACTCCCCTCGGCCAGGGCCGCGTCAACCAG    c.120
 P  R  S  G  F  P  L  E  V |   S  T  P  L  G  Q  G  R  V  N  Q      p.40

          .         .         .         .         .         .       g.6863
 CTCGGCGGTGTTTTTATCAACGGCAGGCCGCTGCCCAACCACATCCGCCACAAGATCGTG       c.180
 L  G  G  V  F  I  N  G  R  P  L  P  N  H  I  R  H  K  I  V         p.60

          .         .         .         .         .         .       g.6923
 GAGATGGCCCACCACGGCATCCGGCCCTGCGTCATCTCGCGCCAGCTGCGCGTGTCCCAC       c.240
 E  M  A  H  H  G  I  R  P  C  V  I  S  R  Q  L  R  V  S  H         p.80

          .         .         .         .         .         .       g.6983
 GGCTGCGTCTCCAAGATCCTGTGCAGGTACCAGGAGACTGGCTCCATACGTCCTGGTGCC       c.300
 G  C  V  S  K  I  L  C  R  Y  Q  E  T  G  S  I  R  P  G  A         p.100

          .         .  | 03      .         .         .         .    g.8363
 ATCGGCGGCAGCAAGCCCAAG | CAGGTGACAACGCCTGACGTGGAGAAGAAAATTGAGGAA    c.360
 I  G  G  S  K  P  K   | Q  V  T  T  P  D  V  E  K  K  I  E  E      p.120

          .         .         .         .         .         .       g.8423
 TACAAAAGAGAGAACCCGGGCATGTTCAGCTGGGAAATCCGAGACAAATTACTCAAGGAC       c.420
 Y  K  R  E  N  P  G  M  F  S  W  E  I  R  D  K  L  L  K  D         p.140

          .         .         .  | 04      .         .         .    g.9709
 GCGGTCTGTGATCGAAACACCGTGCCGTCAG | TGAGTTCCATCAGCCGCATCCTGAGAAGT    c.480
 A  V  C  D  R  N  T  V  P  S  V |   S  S  I  S  R  I  L  R  S      p.160

          .         .         .         .         .         .       g.9769
 AAATTCGGGAAAGGTGAAGAGGAGGAGGCCGACTTGGAGAGGAAGGAGGCAGAGGAAAGC       c.540
 K  F  G  K  G  E  E  E  E  A  D  L  E  R  K  E  A  E  E  S         p.180

          .         .         .         .       | 05 .         .    g.71712
 GAGAAGAAGGCCAAACACAGCATCGACGGCATCCTGAGCGAGCGAG | CCTCAGCACCCCAA    c.600
 E  K  K  A  K  H  S  I  D  G  I  L  S  E  R  A |   S  A  P  Q      p.200

          .         .         .         .         .         .       g.71772
 TCAGATGAAGGCTCTGATATTGACTCTGAACCAGATTTACCACTAAAGAGGAAACAGCGC       c.660
 S  D  E  G  S  D  I  D  S  E  P  D  L  P  L  K  R  K  Q  R         p.220

          .         .         .         .         .         .       g.71832
 AGAAGCCGAACCACCTTCACAGCAGAACAGCTGGAGGAACTGGAGCGTGCTTTTGAGAGA       c.720
 R  S  R  T  T  F  T  A  E  Q  L  E  E  L  E  R  A  F  E  R         p.240

          .         .         .         .         .         .       g.71892
 ACTCATTACCCTGACATTTATACTAGGGAGGAACTGGCCCAGAGGGCGAAGCTCACCGAG       c.780
 T  H  Y  P  D  I  Y  T  R  E  E  L  A  Q  R  A  K  L  T  E         p.260

          .   | 06     .         .         .         .         .    g.82642
 GCCCGAGTACAG | GTCTGGTTTAGCAACCGCCGTGCAAGATGGAGGAAGCAAGCTGGGGCC    c.840
 A  R  V  Q   | V  W  F  S  N  R  R  A  R  W  R  K  Q  A  G  A      p.280

          .         .         .         .         .         .       g.82702
 AATCAACTGATGGCTTTCAACCATCTCATTCCCGGGGGGTTCCCTCCCACTGCCATGCCG       c.900
 N  Q  L  M  A  F  N  H  L  I  P  G  G  F  P  P  T  A  M  P         p.300

          .         .         .         .         .         | 07    g.83629
 ACCTTGCCAACGTACCAGCTGTCGGAGACCTCTTACCAGCCCACATCTATTCCACAAG | CT    c.960
 T  L  P  T  Y  Q  L  S  E  T  S  Y  Q  P  T  S  I  P  Q  A |       p.320

          .         .         .         .         .         .       g.83689
 GTGTCAGATCCCAGCAGCACCGTTCACAGACCTCAACCGCTTCCTCCAAGCACTGTACAC       c.1020
 V  S  D  P  S  S  T  V  H  R  P  Q  P  L  P  P  S  T  V  H         p.340

          .         .         .         .         .         .       g.83749
 CAAAGCACGATTCCTTCCAACCCAGACAGCAGCTCTGCCTACTGCCTCCCCAGCACCAGG       c.1080
 Q  S  T  I  P  S  N  P  D  S  S  S  A  Y  C  L  P  S  T  R         p.360

          .         .         .         .         .         .       g.83809
 CATGGATTTTCCAGCTATACAGACAGCTTTGTGCCTCCGTCGGGGCCCTCCAACCCCATG       c.1140
 H  G  F  S  S  Y  T  D  S  F  V  P  P  S  G  P  S  N  P  M         p.380

          .         .         .    | 08    .         .         .    g.101818
 AACCCCACCATTGGCAATGGCCTCTCACCTCAG | GTAATGGGACTCCTGACCAACCACGGT    c.1200
 N  P  T  I  G  N  G  L  S  P  Q   | V  M  G  L  L  T  N  H  G      p.400

          .         .         .         .         .         .       g.101878
 GGGGTACCTCATCAGCCCCAGACTGATTACGCGCTCTCCCCTCTCACCGGGGGTCTGGAA       c.1260
 G  V  P  H  Q  P  Q  T  D  Y  A  L  S  P  L  T  G  G  L  E         p.420

          .         .         .         .         .         .       g.101938
 CCTACCACCACGGTGTCGGCCAGCTGCAGTCAGAGACTAGACCATATGAAGAGCTTGGAC       c.1320
 P  T  T  T  V  S  A  S  C  S  Q  R  L  D  H  M  K  S  L  D         p.440

          .         .         .         .         .         .       g.101998
 AGTCTGCCAACATCTCAGTCCTACTGTCCACCCACCTATAGCACCACAGGCTACAGTATG       c.1380
 S  L  P  T  S  Q  S  Y  C  P  P  T  Y  S  T  T  G  Y  S  M         p.460

          .         .         .         .         .         .       g.102058
 GACCCTGTCACAGGCTACCAATATGGGCAGTATGGACAAAGTAAGCCTTGGACTTTTTAG       c.1440
 D  P  V  T  G  Y  Q  Y  G  Q  Y  G  Q  S  K  P  W  T  F  X         p.479

          .         .         .         .         .         .       g.102118
 ggggcaatttctcctggaagggagataaactcaactcttccttaagaaaggtgaattaga       c.*60

          .         .         .         .         .         .       g.102178
 ggcaagattaagccacacatgccggtatcaatttttttttttttttgcaaagccagctga       c.*120

          .         .         .         .         .         .       g.102238
 ctgttccagcaggggcttccttgtgtaattattttcttaactgatgtcaacaacatcttg       c.*180

          .         .         .                                     g.102269
 cggttattaattgttgagacgtgaaacctga                                    c.*211

 (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 Paired box 3 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.