Myosin binding protein C, cardiac (MYBPC3) - coding DNA reference sequence

(used for mutation description)

(last modified July 23, 2010)


This file was created to facilitate the description of sequence variants in the MYBPC3 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_007667.1, covering MYBPC3 transcript NM_000256.3

Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5055
      agtccctctttgggtgacctgtgcctgcttcgtgcctggtgtgacgtctctcagg       c.-1

          .         .      | 02  .         .         .         .    g.6232
 ATGCCTGAGCCGGGGAAGAAGCCAG | TCTCAGCTTTTAGCAAGAAGCCACGGTCAGTGGAA    c.60
 M  P  E  P  G  K  K  P  V |   S  A  F  S  K  K  P  R  S  V  E      p.20

          .         .         .         .         .         .       g.6292
 GTGGCCGCAGGCAGCCCTGCCGTGTTCGAGGCCGAGACAGAGCGGGCAGGAGTGAAGGTG       c.120
 V  A  A  G  S  P  A  V  F  E  A  E  T  E  R  A  G  V  K  V         p.40

          .         .         .         .         .         .       g.6352
 CGCTGGCAGCGCGGAGGCAGTGACATCAGCGCCAGCAACAAGTACGGCCTGGCCACAGAG       c.180
 R  W  Q  R  G  G  S  D  I  S  A  S  N  K  Y  G  L  A  T  E         p.60

          .         .         .         .         .         .       g.6412
 GGCACACGGCATACGCTGACAGTGCGGGAAGTGGGCCCTGCCGACCAGGGATCTTACGCA       c.240
 G  T  R  H  T  L  T  V  R  E  V  G  P  A  D  Q  G  S  Y  A         p.80

          .         .         .         .         .   | 03     .    g.7095
 GTCATTGCTGGCTCCTCCAAGGTCAAGTTCGACCTCAAGGTCATAGAGGCAG | AGAAGGCA    c.300
 V  I  A  G  S  S  K  V  K  F  D  L  K  V  I  E  A  E |   K  A      p.100

          .         .         .         .         .         .       g.7155
 GAGCCCATGCTGGCCCCTGCCCCTGCCCCTGCTGAGGCCACTGGAGCCCCTGGAGAAGCC       c.360
 E  P  M  L  A  P  A  P  A  P  A  E  A  T  G  A  P  G  E  A         p.120

          .         .         .         .       | 04 .         .    g.7604
 CCGGCCCCAGCCGCTGAGCTGGGAGAAAGTGCCCCAAGTCCCAAAG | GGTCAAGCTCAGCA    c.420
 P  A  P  A  A  E  L  G  E  S  A  P  S  P  K  G |   S  S  S  A      p.140

          .         .         .         .         .         .       g.7664
 GCTCTCAATGGTCCTACCCCTGGAGCCCCCGATGACCCCATTGGCCTCTTCGTGATGCGG       c.480
 A  L  N  G  P  T  P  G  A  P  D  D  P  I  G  L  F  V  M  R         p.160

          .         .      | 05  .         .         .         .    g.7815
 CCACAGGATGGCGAGGTGACCGTGG | GTGGCAGCATCACCTTCTCAGCCCGCGTGGCCGGC    c.540
 P  Q  D  G  E  V  T  V  G |   G  S  I  T  F  S  A  R  V  A  G      p.180

          .         .         .         .         .         .       g.7875
 GCCAGCCTCCTGAAGCCGCCTGTGGTCAAGTGGTTCAAGGGCAAATGGGTGGACCTGAGC       c.600
 A  S  L  L  K  P  P  V  V  K  W  F  K  G  K  W  V  D  L  S         p.200

          .         .         .         .         .     | 06   .    g.9167
 AGCAAGGTGGGCCAGCACCTGCAGCTGCACGACAGCTACGACCGCGCCAGCAAG | GTCTAT    c.660
 S  K  V  G  Q  H  L  Q  L  H  D  S  Y  D  R  A  S  K   | V  Y      p.220

          .         .         .         .         .         .       g.9227
 CTGTTCGAGCTGCACATCACCGATGCCCAGCCTGCCTTCACTGGCAGCTACCGCTGTGAG       c.720
 L  F  E  L  H  I  T  D  A  Q  P  A  F  T  G  S  Y  R  C  E         p.240

          .         .         .         .         .   | 07     .    g.9805
 GTGTCCACCAAGGACAAATTTGACTGCTCCAACTTCAATCTCACTGTCCACG | AGGCCATG    c.780
 V  S  T  K  D  K  F  D  C  S  N  F  N  L  T  V  H  E |   A  M      p.260

          .         .         .         .  | 08      .         .    g.10041
 GGCACCGGAGACCTGGACCTCCTATCAGCCTTCCGCCGCAC | GAGCCTGGCTGGAGGTGGT    c.840
 G  T  G  D  L  D  L  L  S  A  F  R  R  T  |  S  L  A  G  G  G      p.280

          .  | 09      .         .         .         .         .    g.10272
 CGGCGGATCAG | TGATAGCCATGAGGACACTGGGATTCTGGACTTCAGCTCACTGCTGAAA    c.900
 R  R  I  S  |  D  S  H  E  D  T  G  I  L  D  F  S  S  L  L  K      p.300

       | 10  | 11         .       | 12 .         .         .         . g.11366
 AAGAG | AGA | CAGTTTCCGGACCCCGAG | GGACTCGAAGCTGGAGGCACCAGCAGAGGAGGAC c.960
 K  R  |  D  |  S  F  R  T  P  R  |  D  S  K  L  E  A  P  A  E  E  D   p.320

          .         .         .         .         .         .       g.11426
 GTGTGGGAGATCCTACGGCAGGCACCCCCATCTGAGTACGAGCGCATCGCCTTCCAGTAC       c.1020
 V  W  E  I  L  R  Q  A  P  P  S  E  Y  E  R  I  A  F  Q  Y         p.340

          .         .         .         .         .         .       g.11486
 GGCGTCACTGACCTGCGCGGCATGCTAAAGAGGCTCAAGGGCATGAGGCGCGATGAGAAG       c.1080
 G  V  T  D  L  R  G  M  L  K  R  L  K  G  M  R  R  D  E  K         p.360

          . | 13       .         .         .         .         .    g.14128
 AAGAGCACAG | CCTTTCAGAAGAAGCTGGAGCCGGCCTACCAGGTGAGCAAAGGCCACAAG    c.1140
 K  S  T  A |   F  Q  K  K  L  E  P  A  Y  Q  V  S  K  G  H  K      p.380

          .         .         .         .         .         .       g.14188
 ATCCGGCTGACCGTGGAACTGGCTGACCATGACGCTGAGGTCAAATGGCTCAAGAATGGC       c.1200
 I  R  L  T  V  E  L  A  D  H  D  A  E  V  K  W  L  K  N  G         p.400

          .         .    | 14  | 15 .         .         .         . g.14591
 CAGGAGATCCAGATGAGCGGCAG | CAA | GTACATCTTTGAGTCCATCGGTGCCAAGCGTACC c.1260
 Q  E  I  Q  M  S  G  S  |  K  |  Y  I  F  E  S  I  G  A  K  R  T   p.420

          .         .         .         .         .         .       g.14651
 CTGACCATCAGCCAGTGCTCATTGGCGGACGACGCAGCCTACCAGTGCGTGGTGGGTGGC       c.1320
 L  T  I  S  Q  C  S  L  A  D  D  A  A  Y  Q  C  V  V  G  G         p.440

          .         .         .  | 16      .         .         .    g.14796
 GAGAAGTGTAGCACGGAGCTCTTTGTGAAAG | AGCCCCCTGTGCTCATCACGCGCCCCTTG    c.1380
 E  K  C  S  T  E  L  F  V  K  E |   P  P  V  L  I  T  R  P  L      p.460

          .         .         .         .         .         .       g.14856
 GAGGACCAGCTGGTGATGGTGGGGCAGCGGGTGGAGTTTGAGTGTGAAGTATCGGAGGAG       c.1440
 E  D  Q  L  V  M  V  G  Q  R  V  E  F  E  C  E  V  S  E  E         p.480

          .        | 17.         .         .         .         .    g.15001
 GGGGCGCAAGTCAAATG | GCTGAAGGACGGGGTGGAGCTGACCCGGGAGGAGACCTTCAAA    c.1500
 G  A  Q  V  K  W  |  L  K  D  G  V  E  L  T  R  E  E  T  F  K      p.500

          .         .         .         .         .         .       g.15061
 TACCGGTTCAAGAAGGACGGGCAGAGACACCACCTGATCATCAACGAGGCCATGCTGGAG       c.1560
 Y  R  F  K  K  D  G  Q  R  H  H  L  I  I  N  E  A  M  L  E         p.520

          .         .         .         .         .         .       g.15121
 GACGCGGGGCACTATGCACTGTGCACTAGCGGGGGCCAGGCGCTGGCTGAGCTCATTGTG       c.1620
 D  A  G  H  Y  A  L  C  T  S  G  G  Q  A  L  A  E  L  I  V         p.540

      | 18   .         .         .         .         .         .    g.15602
 CAGG | AAAAGAAGCTGGAGGTGTACCAGAGCATCGCAGACCTGATGGTGGGCGCAAAGGAC    c.1680
 Q  E |   K  K  L  E  V  Y  Q  S  I  A  D  L  M  V  G  A  K  D      p.560

          .         .         .         .         .         .       g.15662
 CAGGCGGTGTTCAAATGTGAGGTCTCAGATGAGAATGTTCGGGGTGTGTGGCTGAAGAAT       c.1740
 Q  A  V  F  K  C  E  V  S  D  E  N  V  R  G  V  W  L  K  N         p.580

          .         .         .         .         . | 19       .    g.16468
 GGGAAGGAGCTGGTGCCCGACAGCCGCATAAAGGTGTCCCACATCGGGCG | GGTCCACAAA    c.1800
 G  K  E  L  V  P  D  S  R  I  K  V  S  H  I  G  R  |  V  H  K      p.600

          .         .         .         .         .         .       g.16528
 CTGACCATTGACGACGTCACACCTGCCGACGAGGCTGACTACAGCTTTGTGCCCGAGGGC       c.1860
 L  T  I  D  D  V  T  P  A  D  E  A  D  Y  S  F  V  P  E  G         p.620

          .         .         .        | 20.         .         .    g.16693
 TTCGCCTGCAACCTGTCAGCCAAGCTCCACTTCATGG | AGGTCAAGATTGACTTCGTACCC    c.1920
 F  A  C  N  L  S  A  K  L  H  F  M  E |   V  K  I  D  F  V  P      p.640

         | 21.         .         .         .         .         .    g.17965
 AGGCAGG | AACCTCCCAAGATCCACCTGGACTGCCCAGGCCGCATACCAGACACCATTGTG    c.1980
 R  Q  E |   P  P  K  I  H  L  D  C  P  G  R  I  P  D  T  I  V      p.660

          .         .         .         .         .         .       g.18025
 GTTGTAGCTGGAAATAAGCTACGTCTGGACGTCCCTATCTCTGGGGACCCTGCTCCCACT       c.2040
 V  V  A  G  N  K  L  R  L  D  V  P  I  S  G  D  P  A  P  T         p.680

          .         .        | 22.         .         .         .    g.18331
 GTGATCTGGCAGAAGGCTATCACGCAG | GGGAATAAGGCCCCAGCCAGGCCAGCCCCAGAT    c.2100
 V  I  W  Q  K  A  I  T  Q   | G  N  K  A  P  A  R  P  A  P  D      p.700

          .         .         .         .         | 23         .    g.19035
 GCCCCAGAGGACACAGGTGACAGCGATGAGTGGGTGTTTGACAAGAAG | CTGCTGTGTGAG    c.2160
 A  P  E  D  T  G  D  S  D  E  W  V  F  D  K  K   | L  L  C  E      p.720

          .         .         .         .         .         .       g.19095
 ACCGAGGGCCGGGTCCGCGTGGAGACCACCAAGGACCGCAGCATCTTCACGGTCGAGGGG       c.2220
 T  E  G  R  V  R  V  E  T  T  K  D  R  S  I  F  T  V  E  G         p.740

          .         .         .         .         .         .       g.19155
 GCAGAGAAGGAAGATGAGGGCGTCTACACGGTCACAGTGAAGAACCCTGTGGGCGAGGAC       c.2280
 A  E  K  E  D  E  G  V  Y  T  V  T  V  K  N  P  V  G  E  D         p.760

          .         .         | 24         .         .         .    g.19940
 CAGGTCAACCTCACAGTCAAGGTCATCG | ACGTGCCAGACGCACCTGCGGCCCCCAAGATC    c.2340
 Q  V  N  L  T  V  K  V  I  D |   V  P  D  A  P  A  A  P  K  I      p.780

          .         .         .         .         .         .       g.20000
 AGCAACGTGGGAGAGGACTCCTGCACAGTACAGTGGGAGCCGCCTGCCTACGATGGCGGG       c.2400
 S  N  V  G  E  D  S  C  T  V  Q  W  E  P  P  A  Y  D  G  G         p.800

          .    | 25    .         .         .         .         .    g.20170
 CAGCCCATCCTGG | GCTACATCCTGGAGCGCAAGAAGAAGAAGAGCTACCGGTGGATGCGG    c.2460
 Q  P  I  L  G |   Y  I  L  E  R  K  K  K  K  S  Y  R  W  M  R      p.820

          .         .         .         .         .         .       g.20230
 CTGAACTTCGACCTGATTCAGGAGCTGAGTCATGAAGCGCGGCGCATGATCGAGGGCGTG       c.2520
 L  N  F  D  L  I  Q  E  L  S  H  E  A  R  R  M  I  E  G  V         p.840

          .         .         .         .         .         .       g.20290
 GTGTACGAGATGCGCGTCTACGCGGTCAACGCCATCGGCATGTCCAGGCCCAGCCCTGCC       c.2580
 V  Y  E  M  R  V  Y  A  V  N  A  I  G  M  S  R  P  S  P  A         p.860

          .         .   | 26     .         .         .         .    g.21729
 TCCCAGCCCTTCATGCCTATCG | GTCCCCCCAGCGAACCCACCCACCTGGCAGTAGAGGAC    c.2640
 S  Q  P  F  M  P  I  G |   P  P  S  E  P  T  H  L  A  V  E  D      p.880

          .         .         .         .         .         .       g.21789
 GTCTCTGACACCACGGTCTCCCTCAAGTGGCGGCCCCCAGAGCGCGTGGGAGCAGGAGGC       c.2700
 V  S  D  T  T  V  S  L  K  W  R  P  P  E  R  V  G  A  G  G         p.900

          .         .         .        | 27.         .         .    g.22516
 CTGGATGGCTACAGCGTGGAGTACTGCCCAGAGGGCT | GCTCAGAGTGGGTGGCTGCCCTG    c.2760
 L  D  G  Y  S  V  E  Y  C  P  E  G  C |   S  E  W  V  A  A  L      p.920

          .         .         .         .         .         .       g.22576
 CAGGGGCTGACAGAGCACACATCGATACTGGTGAAGGACCTGCCCACGGGGGCCCGGCTG       c.2820
 Q  G  L  T  E  H  T  S  I  L  V  K  D  L  P  T  G  A  R  L         p.940

          .         .         .         .         .         .       g.22636
 CTTTTCCGAGTGCGGGCACACAATATGGCAGGGCCTGGAGCCCCTGTTACCACCACGGAG       c.2880
 L  F  R  V  R  A  H  N  M  A  G  P  G  A  P  V  T  T  T  E         p.960

          .         .      | 28  .         .         .         .    g.23727
 CCGGTGACAGTGCAGGAGATCCTGC | AACGGCCACGGCTTCAGCTGCCCAGGCACCTGCGC    c.2940
 P  V  T  V  Q  E  I  L  Q |   R  P  R  L  Q  L  P  R  H  L  R      p.980

          .         .         .         .         .     | 29   .    g.23956
 CAGACCATTCAGAAGAAGGTCGGGGAGCCTGTGAACCTTCTCATCCCTTTCCAG | GGCAAG    c.3000
 Q  T  I  Q  K  K  V  G  E  P  V  N  L  L  I  P  F  Q   | G  K      p.1000

          .         .         .         .         .         .       g.24016
 CCCCGGCCTCAGGTGACCTGGACCAAAGAGGGGCAGCCCCTGGCAGGCGAGGAGGTGAGC       c.3060
 P  R  P  Q  V  T  W  T  K  E  G  Q  P  L  A  G  E  E  V  S         p.1020

          .         .         .         .         .         .       g.24076
 ATCCGCAACAGCCCCACAGACACCATCCTGTTCATCCGGGCCGCTCGCCGCGTGCATTCA       c.3120
 I  R  N  S  P  T  D  T  I  L  F  I  R  A  A  R  R  V  H  S         p.1040

          .         .         .         .         .         .       g.24136
 GGCACTTACCAGGTGACGGTGCGCATTGAGAACATGGAGGACAAGGCCACGCTGGTGCTG       c.3180
 G  T  Y  Q  V  T  V  R  I  E  N  M  E  D  K  A  T  L  V  L         p.1060

          . | 30       .         .         .         .         .    g.24419
 CAGGTTGTTG | ACAAGCCAAGTCCTCCCCAGGATCTCCGGGTGACTGACGCCTGGGGTCTT    c.3240
 Q  V  V  D |   K  P  S  P  P  Q  D  L  R  V  T  D  A  W  G  L      p.1080

          .         .         .         .         .         .       g.24479
 AATGTGGCTCTGGAGTGGAAGCCACCCCAGGATGTCGGCAACACGGAGCTCTGGGGGTAC       c.3300
 N  V  A  L  E  W  K  P  P  Q  D  V  G  N  T  E  L  W  G  Y         p.1100

          .         .         . | 31       .         .         .    g.24759
 ACAGTGCAGAAAGCCGACAAGAAGACCATG | GAGTGGTTCACCGTCTTGGAGCATTACCGC    c.3360
 T  V  Q  K  A  D  K  K  T  M   | E  W  F  T  V  L  E  H  Y  R      p.1120

          .         .         .         .         .         .       g.24819
 CGCACCCACTGCGTGGTGCCAGAGCTCATCATTGGCAATGGCTACTACTTCCGCGTCTTC       c.3420
 R  T  H  C  V  V  P  E  L  I  I  G  N  G  Y  Y  F  R  V  F         p.1140

          .         .         .         .         .         .       g.24879
 AGCCAGAATATGGTTGGCTTTAGTGACAGAGCGGCCACCACCAAGGAGCCCGTCTTTATC       c.3480
 S  Q  N  M  V  G  F  S  D  R  A  A  T  T  K  E  P  V  F  I         p.1160

          . | 32       .         .         .         .         .    g.25050
 CCCAGACCAG | GCATCACCTATGAGCCACCCAACTATAAGGCCCTGGACTTCTCCGAGGCC    c.3540
 P  R  P  G |   I  T  Y  E  P  P  N  Y  K  A  L  D  F  S  E  A      p.1180

          .         .         .         .         .         .       g.25110
 CCAAGCTTCACCCAGCCCCTGGTGAACCGCTCGGTCATCGCGGGCTACACTGCTATGCTC       c.3600
 P  S  F  T  Q  P  L  V  N  R  S  V  I  A  G  Y  T  A  M  L         p.1200

          .         .        | 33.         .         .         .    g.25477
 TGCTGTGCTGTCCGGGGTAGCCCCAAG | CCCAAGATTTCCTGGTTCAAGAATGGCCTGGAC    c.3660
 C  C  A  V  R  G  S  P  K   | P  K  I  S  W  F  K  N  G  L  D      p.1220

          .         .         .         .         .         .       g.25537
 CTGGGAGAAGACGCCCGCTTCCGCATGTTCAGCAAGCAGGGAGTGTTGACTCTGGAGATT       c.3720
 L  G  E  D  A  R  F  R  M  F  S  K  Q  G  V  L  T  L  E  I         p.1240

          .         .         .         .         .         .       g.25597
 AGAAAGCCCTGCCCCTTTGACGGGGGCATCTATGTCTGCAGGGCCACCAACTTACAGGGC       c.3780
 R  K  P  C  P  F  D  G  G  I  Y  V  C  R  A  T  N  L  Q  G         p.1260

          .         .         .     | 34   .                        g.25847
 GAGGCACGGTGTGAGTGCCGCCTGGAGGTGCGAG | TGCCTCAGTGA                   c.3825
 E  A  R  C  E  C  R  L  E  V  R  V |   P  Q  X                     p.1274

          .         .       | 35 .         .         .         .    g.26035
 ccaggctggctcctggggatggccag | gtacaaccggatgccagccccgtgccaggagcct    c.*60

          .         .         .         .         .         .       g.26095
 ggagggaagttggggaaacccctccctactgttggatgtatgtgtgacaagtgtgtctcc       c.*120

          .         .         .         .         .         .       g.26155
 tgtgctgcgatgggggatcagcagggcagttgtcgggcagtcctgagtgggtgttgcaca       c.*180

          .         .         .         .         .         .       g.26215
 gactggtccacagggctcctgaaggaagcccctggatctttggggtaaaaggagggtggc       c.*240

          .         .         .         .         .         .       g.26275
 ctcaagaaacaatgtctggggacaggcctttctggcctgctatgtcttcccaatgtttat       c.*300

          .         .         .                                     g.26312
 tgggcaataaaagataagtgcagtcacagagaactca                              c.*337

 (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 10th nucleotide is indicated by a "." above the sequence. The Myosin binding protein C, cardiac protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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 mutations, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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