homeobox B13 (HOXB13) - coding DNA reference sequence

(used for variant description)

(last modified August 13, 2019)

This file was created to facilitate the description of sequence variants on transcript NM_006361.5 in the HOXB13 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_033789.1, covering HOXB13 transcript NM_006361.5.

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

 (upstream sequence)
                               .         .         .                g.5036
                         tcttgcgtcaagacggccgtgctgagcgaatgcagg       c.-121

 .         .         .         .         .         .                g.5096
 cgacttgcgagctgggagcgatttaaaacgctttggattcccccggcctgggtggggaga       c.-61

 .         .         .         .         .         .                g.5156
 gcgagctgggtgccccctagattccccgcccccgcacctcatgagccgaccctcggctcc       c.-1

          .         .         .         .         .         .       g.5216
 ATGGAGCCCGGCAATTATGCCACCTTGGATGGAGCCAAGGATATCGAAGGCTTGCTGGGA       c.60
 M  E  P  G  N  Y  A  T  L  D  G  A  K  D  I  E  G  L  L  G         p.20

          .         .         .         .         .         .       g.5276
 GCGGGAGGGGGGCGGAATCTGGTCGCCCACTCCCCTCTGACCAGCCACCCAGCGGCGCCT       c.120
 A  G  G  G  R  N  L  V  A  H  S  P  L  T  S  H  P  A  A  P         p.40

          .         .         .         .         .         .       g.5336
 ACGCTGATGCCTGCTGTCAACTATGCCCCCTTGGATCTGCCAGGCTCGGCGGAGCCGCCA       c.180
 T  L  M  P  A  V  N  Y  A  P  L  D  L  P  G  S  A  E  P  P         p.60

          .         .         .         .         .         .       g.5396
 AAGCAATGCCACCCATGCCCTGGGGTGCCCCAGGGGACGTCCCCAGCTCCCGTGCCTTAT       c.240
 K  Q  C  H  P  C  P  G  V  P  Q  G  T  S  P  A  P  V  P  Y         p.80

          .         .         .         .         .         .       g.5456
 GGTTACTTTGGAGGCGGGTACTACTCCTGCCGAGTGTCCCGGAGCTCGCTGAAACCCTGT       c.300
 G  Y  F  G  G  G  Y  Y  S  C  R  V  S  R  S  S  L  K  P  C         p.100

          .         .         .         .         .         .       g.5516
 GCCCAGGCAGCCACCCTGGCCGCGTACCCCGCGGAGACTCCCACGGCCGGGGAAGAGTAC       c.360
 A  Q  A  A  T  L  A  A  Y  P  A  E  T  P  T  A  G  E  E  Y         p.120

          .         .         .         .         .         .       g.5576
 CCCAGCCGCCCCACTGAGTTTGCCTTCTATCCGGGATATCCGGGAACCTACCAGCCTATG       c.420
 P  S  R  P  T  E  F  A  F  Y  P  G  Y  P  G  T  Y  Q  P  M         p.140

          .         .         .         .         .         .       g.5636
 GCCAGTTACCTGGACGTGTCTGTGGTGCAGACTCTGGGTGCTCCTGGAGAACCGCGACAT       c.480
 A  S  Y  L  D  V  S  V  V  Q  T  L  G  A  P  G  E  P  R  H         p.160

          .         .         .         .         .         .       g.5696
 GACTCCCTGTTGCCTGTGGACAGTTACCAGTCTTGGGCTCTCGCTGGTGGCTGGAACAGC       c.540
 D  S  L  L  P  V  D  S  Y  Q  S  W  A  L  A  G  G  W  N  S         p.180

          .         .         .         .         .         .       g.5756
 CAGATGTGTTGCCAGGGAGAACAGAACCCACCAGGTCCCTTTTGGAAGGCAGCATTTGCA       c.600
 Q  M  C  C  Q  G  E  Q  N  P  P  G  P  F  W  K  A  A  F  A         p.200

   | 02      .         .         .         .         .         .    g.6765
 G | ACTCCAGCGGGCAGCACCCTCCTGACGCCTGCGCCTTTCGTCGCGGCCGCAAGAAACGC    c.660
 D |   S  S  G  Q  H  P  P  D  A  C  A  F  R  R  G  R  K  K  R      p.220

          .         .         .         .         .         .       g.6825
 ATTCCGTACAGCAAGGGGCAGTTGCGGGAGCTGGAGCGGGAGTATGCGGCTAACAAGTTC       c.720
 I  P  Y  S  K  G  Q  L  R  E  L  E  R  E  Y  A  A  N  K  F         p.240

          .         .         .         .         .         .       g.6885
 ATCACCAAGGACAAGAGGCGCAAGATCTCGGCAGCCACCAGCCTCTCGGAGCGCCAGATT       c.780
 I  T  K  D  K  R  R  K  I  S  A  A  T  S  L  S  E  R  Q  I         p.260

          .         .         .         .         .         .       g.6945
 ACCATCTGGTTTCAGAACCGCCGGGTCAAAGAGAAGAAGGTTCTCGCCAAGGTGAAGAAC       c.840
 T  I  W  F  Q  N  R  R  V  K  E  K  K  V  L  A  K  V  K  N         p.280

          .                                                         g.6960
 AGCGCTACCCCTTAA                                                    c.855
 S  A  T  P  X                                                      p.284

          .         .         .         .         .         .       g.7020
 gagatctccttgcctgggtgggaggagcgaaagtgggggtgtcctggggagaccaggaac       c.*60

          .         .         .         .         .         .       g.7080
 ctgccaagcccaggctggggccaaggactctgctgagaggcccctagagacaacaccctt       c.*120

          .         .         .         .         .         .       g.7140
 cccaggccactggctgctggactgttcctcaggagcggcctgggtacccagtatgtgcag       c.*180

          .         .         .         .         .         .       g.7200
 ggagacggaaccccatgtgacagcccactccaccagggttcccaaagaacctggcccagt       c.*240

          .         .         .         .         .         .       g.7260
 cataatcattcatcctgacagtggcaataatcacgataaccagtactagctgccatgatc       c.*300

          .         .         .         .         .         .       g.7320
 gttagcctcatattttctatctagagctctgtagagcactttagaaaccgctttcatgaa       c.*360

          .         .         .         .         .         .       g.7380
 ttgagctaattatgaataaatttggaaggcgatccctttgcagggaagctttctctcaga       c.*420

          .         .         .         .         .         .       g.7440
 cccccttccattacacctctcaccctggtaacagcaggaagactgaggagaggggaacgg       c.*480

          .         .         .         .         .         .       g.7500
 gcagattcgttgtgtggctgtgatgtccgtttagcatttttctcagctgacagctgggta       c.*540

          .         .         .         .         .         .       g.7560
 ggtggacaattgtagaggctgtctcttcctccctccttgtccaccccatagggtgtaccc       c.*600

          .         .         .         .         .         .       g.7620
 actggtcttggaagcacccatccttaatacgatgatttttctgtcgtgtgaaaatgaagc       c.*660

          .         .         .         .         .         .       g.7680
 cagcaggctgcccctagtcagtccttccttccagagaaaaagagatttgagaaagtgcct       c.*720

          .         .         .         .         .         .       g.7740
 gggtaattcaccattaatttcctcccccaaactctctgagtcttcccttaatatttctgg       c.*780

          .         .         .         .         .         .       g.7800
 tggttctgaccaaagcaggtcatggtttgttgagcatttgggatcccagtgaagtagatg       c.*840

          .         .         .         .         .         .       g.7860
 tttgtagccttgcatacttagcccttcccaggcacaaacggagtggcagagtggtgccaa       c.*900

          .         .         .         .         .         .       g.7920
 ccctgttttcccagtccacgtagacagattcacagtgcggaattctggaagctggagaca       c.*960

          .         .         .         .         .         .       g.7980
 gacgggctctttgcagagccgggactctgagagggacatgagggcctctgcctctgtgtt       c.*1020

          .         .         .         .         .         .       g.8040
 cattctctgatgtcctgtacctgggctcagtgcccggtgggactcatctcctggccgcgc       c.*1080

          .         .         .         .         .         .       g.8100
 agcaaagccagcgggttcgtgctggtccttcctgcaccttaggctgggggtggggggcct       c.*1140

          .         .         .         .         .         .       g.8160
 gccggcgcattctccacgattgagcgcacaggcctgaagtctggacaacccgcagaaccg       c.*1200

          .         .         .         .         .         .       g.8220
 aagctccgagcagcgggtcggtggcgagtagtggggtcggtggcgagcagttggtggtgg       c.*1260

          .         .         .         .         .         .       g.8280
 gccgcggccgccactacctcgaggacatttccctcccggagccagctctcctagaaaccc       c.*1320

          .         .         .         .         .         .       g.8340
 cgcggcggccgccgcagccaagtgtttatggcccgcggtcgggtgggatcctagccctgt       c.*1380

          .         .         .         .         .         .       g.8400
 ctcctctcctgggaaggagtgagggtgggacgtgacttagacacctacaaatctatttac       c.*1440

          .         .         .         .         .         .       g.8460
 caaagaggagcccgggactgagggaaaaggccaaagagtgtgagtgcatgcggactgggg       c.*1500

          .         .         .         .         .         .       g.8520
 gttcaggggaagaggacgaggaggaggaagatgaggtcgatttcctgatttaaaaaatcg       c.*1560

          .         .         .         .         .         .       g.8580
 tccaagccccgtggtccagcttaaggtcctcggttacatgcgccgctcagagcaggtcac       c.*1620

          .         .         .         .         .         .       g.8640
 tttctgccttccacgtcctccttcaaggaagccccatgtgggtagctttcaatatcgcag       c.*1680

          .         .         .         .         .         .       g.8700
 gttcttactcctctgcctctataagctcaaacccaccaacgatcgggcaagtaaaccccc       c.*1740

          .         .         .         .         .         .       g.8760
 tccctcgccgacttcggaactggcgagagttcagcgcagatgggcctgtggggagggggc       c.*1800

          .         .         .         .         .         .       g.8820
 aagatagatgagggggagcggcatggtgcggggtgaccccttggagagaggaaaaaggcc       c.*1860

          .         .         .         .         .         .       g.8880
 acaagaggggctgccaccgccactaacggagatggccctggtagagacctttgggggtct       c.*1920

          .         .         .         .         .         .       g.8940
 ggaacctctggactccccatgctctaactcccacactctgctatcagaaacttaaacttg       c.*1980

          .         .         .         .                           g.8987
 aggattttctctgtttttcactcgcaataaattcagagcaaacaaaa                    c.*2027

 (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 Homeobox B13 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.