bone morphogenetic protein 15 (BMP15) - coding DNA reference sequence

(used for variant description)

(last modified May 15, 2017)

This file was created to facilitate the description of sequence variants on transcript NM_005448.2 in the BMP15 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012894.1, covering BMP15 transcript NM_005448.2.

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

 (upstream sequence)
                     .         .         .         .                g.5000
            tcccttgggcttgtgttggggcctgttgttgaacactaagcctttcaag       c.-1

          .         .         .         .         .         .       g.5060
 ATGGTCCTCCTCAGTATTCTTAGAATTCTTTTTCTTTGTGAACTCGTGCTTTTCATGGAA       c.60
 M  V  L  L  S  I  L  R  I  L  F  L  C  E  L  V  L  F  M  E         p.20

          .         .         .         .         .         .       g.5120
 CACAGGGCCCAAATGGCAGAAGGAGGGCAGTCCTCTATTGCCCTTCTGGCTGAGGCCCCT       c.120
 H  R  A  Q  M  A  E  G  G  Q  S  S  I  A  L  L  A  E  A  P         p.40

          .         .         .         .         .         .       g.5180
 ACTTTGCCCCTGATTGAGGAGCTGCTAGAAGAATCCCCTGGCGAACAGCCAAGGAAGCCC       c.180
 T  L  P  L  I  E  E  L  L  E  E  S  P  G  E  Q  P  R  K  P         p.60

          .         .         .         .         .         .       g.5240
 CGGCTCCTAGGGCATTCACTGCGGTACATGCTGGAGTTGTACCGGCGTTCAGCTGACTCG       c.240
 R  L  L  G  H  S  L  R  Y  M  L  E  L  Y  R  R  S  A  D  S         p.80

          .         .         .         .         .         .       g.5300
 CATGGGCACCCTAGAGAGAACCGCACCATTGGGGCCACCATGGTGAGGCTGGTGAAGCCC       c.300
 H  G  H  P  R  E  N  R  T  I  G  A  T  M  V  R  L  V  K  P         p.100

          .         .         | 02         .         .         .    g.10005
 TTGACCAATGTGGCAAGGCCTCACAGAG | GTACCTGGCATATACAGATCCTGGGCTTTCCT    c.360
 L  T  N  V  A  R  P  H  R  G |   T  W  H  I  Q  I  L  G  F  P      p.120

          .         .         .         .         .         .       g.10065
 CTCAGACCAAACCGAGGACTATACCAACTAGTTAGAGCCACTGTGGTTTACCGCCATCAT       c.420
 L  R  P  N  R  G  L  Y  Q  L  V  R  A  T  V  V  Y  R  H  H         p.140

          .         .         .         .         .         .       g.10125
 CTCCAACTAACTCGCTTCAATCTCTCCTGCCATGTGGAGCCCTGGGTGCAGAAAAACCCA       c.480
 L  Q  L  T  R  F  N  L  S  C  H  V  E  P  W  V  Q  K  N  P         p.160

          .         .         .         .         .         .       g.10185
 ACCAACCACTTCCCTTCCTCAGAAGGAGATTCCTCAAAACCTTCCCTGATGTCTAACGCT       c.540
 T  N  H  F  P  S  S  E  G  D  S  S  K  P  S  L  M  S  N  A         p.180

          .         .         .         .         .         .       g.10245
 TGGAAAGAGATGGATATCACACAACTTGTTCAGCAAAGGTTCTGGAATAACAAGGGACAC       c.600
 W  K  E  M  D  I  T  Q  L  V  Q  Q  R  F  W  N  N  K  G  H         p.200

          .         .         .         .         .         .       g.10305
 AGGATCCTACGACTCCGTTTTATGTGTCAGCAGCAAAAAGATAGTGGTGGTCTTGAGCTC       c.660
 R  I  L  R  L  R  F  M  C  Q  Q  Q  K  D  S  G  G  L  E  L         p.220

          .         .         .         .         .         .       g.10365
 TGGCATGGCACTTCATCCTTGGACATTGCCTTCTTGTTACTCTATTTCAATGATACTCAT       c.720
 W  H  G  T  S  S  L  D  I  A  F  L  L  L  Y  F  N  D  T  H         p.240

          .         .         .         .         .         .       g.10425
 AAAAGCATTCGGAAGGCTAAATTTCTTCCCAGGGGCATGGAGGAGTTCATGGAAAGGGAA       c.780
 K  S  I  R  K  A  K  F  L  P  R  G  M  E  E  F  M  E  R  E         p.260

          .         .         .         .         .         .       g.10485
 TCTCTTCTCCGGAGAACCCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTTCC       c.840
 S  L  L  R  R  T  R  Q  A  D  G  I  S  A  E  V  T  A  S  S         p.280

          .         .         .         .         .         .       g.10545
 TCAAAACATAGCGGGCCTGAAAATAACCAGTGTTCCCTCCACCCTTTCCAAATCAGCTTC       c.900
 S  K  H  S  G  P  E  N  N  Q  C  S  L  H  P  F  Q  I  S  F         p.300

          .         .         .         .         .         .       g.10605
 CGCCAGCTGGGTTGGGATCACTGGATCATTGCTCCCCCTTTCTACACCCCAAACTACTGT       c.960
 R  Q  L  G  W  D  H  W  I  I  A  P  P  F  Y  T  P  N  Y  C         p.320

          .         .         .         .         .         .       g.10665
 AAAGGAACTTGTCTCCGAGTACTACGCGATGGTCTCAATTCCCCCAATCACGCCATTATT       c.1020
 K  G  T  C  L  R  V  L  R  D  G  L  N  S  P  N  H  A  I  I         p.340

          .         .         .         .         .         .       g.10725
 CAGAACCTTATCAATCAGTTGGTGGACCAGAGTGTCCCCCGGCCCTCCTGTGTCCCGTAT       c.1080
 Q  N  L  I  N  Q  L  V  D  Q  S  V  P  R  P  S  C  V  P  Y         p.360

          .         .         .         .         .         .       g.10785
 AAGTATGTTCCAATTAGTGTCCTTATGATTGAGGCAAATGGGAGTATTTTGTACAAGGAG       c.1140
 K  Y  V  P  I  S  V  L  M  I  E  A  N  G  S  I  L  Y  K  E         p.380

          .         .         .                                     g.10824
 TATGAGGGTATGATTGCTGAGTCTTGTACATGCAGATGA                            c.1179
 Y  E  G  M  I  A  E  S  C  T  C  R  X                              p.392

          .         .         .                                     g.10858
 cagcaacagtacggctagatcaggtttcccagga                                 c.*34

 (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 15 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.