bone morphogenetic protein 4 (BMP4) - coding DNA reference sequence

(used for variant description)

(last modified December 10, 2016)

This file was created to facilitate the description of sequence variants on transcript NM_001202.3 in the BMP4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009215.1, covering BMP4 transcript NM_001202.3.

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

 (upstream sequence)
           .         .         .         .         .                g.5059
  aagaggaggaaggaagatgcgagaaggcagaggaggagggagggagggaaggagcgcgg       c.-361

 .         .         .         .         .         .                g.5119
 agcccggcccggaagctaggtgagtgtggcatccgagctgagggacgcgagcctgagacg       c.-301

 .         .         .         .         .         .                g.5179
 ccgctgctgctccggctgagtatctagcttgtctccccgatgggattcccgtccaagcta       c.-241

 .         .         .         .         .         .                g.5239
 tctcgagcctgcagcgccacagtccccggccctcgcccaggttcactgcaaccgttcaga       c.-181

 .         .         .         .         .        | 02.             g.8448
 ggtccccaggagctgctgctggcgagcccgctactgcagggacctatg | gagccattccgt    c.-121

 .         .         .         .         .         .                g.8508
 agtgccatcccgagcaacgcactgctgcagcttccctgagcctttccagcaagtttgttc       c.-61

 .         .         .         .         .         .   | 03         g.9614
 aagattggctgtcaagaatcatggactgttattatatgccttgttttctgtca | agacacc    c.-1

          .         .         .         .         .         .       g.9674
 ATGATTCCTGGTAACCGAATGCTGATGGTCGTTTTATTATGCCAAGTCCTGCTAGGAGGC       c.60
 M  I  P  G  N  R  M  L  M  V  V  L  L  C  Q  V  L  L  G  G         p.20

          .         .         .         .         .         .       g.9734
 GCGAGCCATGCTAGTTTGATACCTGAGACGGGGAAGAAAAAAGTCGCCGAGATTCAGGGC       c.120
 A  S  H  A  S  L  I  P  E  T  G  K  K  K  V  A  E  I  Q  G         p.40

          .         .         .         .         .         .       g.9794
 CACGCGGGAGGACGCCGCTCAGGGCAGAGCCATGAGCTCCTGCGGGACTTCGAGGCGACA       c.180
 H  A  G  G  R  R  S  G  Q  S  H  E  L  L  R  D  F  E  A  T         p.60

          .         .         .         .         .         .       g.9854
 CTTCTGCAGATGTTTGGGCTGCGCCGCCGCCCGCAGCCTAGCAAGAGTGCCGTCATTCCG       c.240
 L  L  Q  M  F  G  L  R  R  R  P  Q  P  S  K  S  A  V  I  P         p.80

          .         .         .         .         .         .       g.9914
 GACTACATGCGGGATCTTTACCGGCTTCAGTCTGGGGAGGAGGAGGAAGAGCAGATCCAC       c.300
 D  Y  M  R  D  L  Y  R  L  Q  S  G  E  E  E  E  E  Q  I  H         p.100

          .         .         .         .         .         .       g.9974
 AGCACTGGTCTTGAGTATCCTGAGCGCCCGGCCAGCCGGGCCAACACCGTGAGGAGCTTC       c.360
 S  T  G  L  E  Y  P  E  R  P  A  S  R  A  N  T  V  R  S  F         p.120

          . | 04       .         .         .         .         .    g.10998
 CACCACGAAG | AACATCTGGAGAACATCCCAGGGACCAGTGAAAACTCTGCTTTTCGTTTC    c.420
 H  H  E  E |   H  L  E  N  I  P  G  T  S  E  N  S  A  F  R  F      p.140

          .         .         .         .         .         .       g.11058
 CTCTTTAACCTCAGCAGCATCCCTGAGAACGAGGTGATCTCCTCTGCAGAGCTTCGGCTC       c.480
 L  F  N  L  S  S  I  P  E  N  E  V  I  S  S  A  E  L  R  L         p.160

          .         .         .         .         .         .       g.11118
 TTCCGGGAGCAGGTGGACCAGGGCCCTGATTGGGAAAGGGGCTTCCACCGTATAAACATT       c.540
 F  R  E  Q  V  D  Q  G  P  D  W  E  R  G  F  H  R  I  N  I         p.180

          .         .         .         .         .         .       g.11178
 TATGAGGTTATGAAGCCCCCAGCAGAAGTGGTGCCTGGGCACCTCATCACACGACTACTG       c.600
 Y  E  V  M  K  P  P  A  E  V  V  P  G  H  L  I  T  R  L  L         p.200

          .         .         .         .         .         .       g.11238
 GACACGAGACTGGTCCACCACAATGTGACACGGTGGGAAACTTTTGATGTGAGCCCTGCG       c.660
 D  T  R  L  V  H  H  N  V  T  R  W  E  T  F  D  V  S  P  A         p.220

          .         .         .         .         .         .       g.11298
 GTCCTTCGCTGGACCCGGGAGAAGCAGCCAAACTATGGGCTAGCCATTGAGGTGACTCAC       c.720
 V  L  R  W  T  R  E  K  Q  P  N  Y  G  L  A  I  E  V  T  H         p.240

          .         .         .         .         .         .       g.11358
 CTCCATCAGACTCGGACCCACCAGGGCCAGCATGTCAGGATTAGCCGATCGTTACCTCAA       c.780
 L  H  Q  T  R  T  H  Q  G  Q  H  V  R  I  S  R  S  L  P  Q         p.260

          .         .         .         .         .         .       g.11418
 GGGAGTGGGAATTGGGCCCAGCTCCGGCCCCTCCTGGTCACCTTTGGCCATGATGGCCGG       c.840
 G  S  G  N  W  A  Q  L  R  P  L  L  V  T  F  G  H  D  G  R         p.280

          .         .         .         .         .         .       g.11478
 GGCCATGCCTTGACCCGACGCCGGAGGGCCAAGCGTAGCCCTAAGCATCACTCACAGCGG       c.900
 G  H  A  L  T  R  R  R  R  A  K  R  S  P  K  H  H  S  Q  R         p.300

          .         .         .         .         .         .       g.11538
 GCCAGGAAGAAGAATAAGAACTGCCGGCGCCACTCGCTCTATGTGGACTTCAGCGATGTG       c.960
 A  R  K  K  N  K  N  C  R  R  H  S  L  Y  V  D  F  S  D  V         p.320

          .         .         .         .         .         .       g.11598
 GGCTGGAATGACTGGATTGTGGCCCCACCAGGCTACCAGGCCTTCTACTGCCATGGGGAC       c.1020
 G  W  N  D  W  I  V  A  P  P  G  Y  Q  A  F  Y  C  H  G  D         p.340

          .         .         .         .         .         .       g.11658
 TGCCCCTTTCCACTGGCTGACCACCTCAACTCAACCAACCATGCCATTGTGCAGACCCTG       c.1080
 C  P  F  P  L  A  D  H  L  N  S  T  N  H  A  I  V  Q  T  L         p.360

          .         .         .         .         .         .       g.11718
 GTCAATTCTGTCAATTCCAGTATCCCCAAAGCCTGTTGTGTGCCCACTGAACTGAGTGCC       c.1140
 V  N  S  V  N  S  S  I  P  K  A  C  C  V  P  T  E  L  S  A         p.380

          .         .         .         .         .         .       g.11778
 ATCTCCATGCTGTACCTGGATGAGTATGATAAGGTGGTACTGAAAAATTATCAGGAGATG       c.1200
 I  S  M  L  Y  L  D  E  Y  D  K  V  V  L  K  N  Y  Q  E  M         p.400

          .         .                                               g.11805
 GTAGTAGAGGGATGTGGGTGCCGCTGA                                        c.1227
 V  V  E  G  C  G  C  R  X                                          p.408

          .         .         .         .         .         .       g.11865
 gatcaggcagtccttgaggatagacagatatacacaccacacacacacaccacatacacc       c.*60

          .         .         .         .         .         .       g.11925
 acacacacacgttcccatccactcacccacacactacacagactgcttccttatagctgg       c.*120

          .         .         .         .         .         .       g.11985
 acttttatttaaaaaaaaaaaaaaaaaaggaaaaaatccctaaacattcaccttgacctt       c.*180

          .         .         .         .         .         .       g.12045
 atttatgactttacgtgcaaatgttttgaccatattgatcatatattttgacaaaatata       c.*240

          .         .         .         .         .                 g.12101
 tttataactacgtattaaaagaaaaaaataaaatgagtcattattttaaaggtaaa           c.*296

 (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 Bone morphogenetic protein 4 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.