myosin VB (MYO5B) - coding DNA reference sequence

(used for variant description)

(last modified June 23, 2017)


This file was created to facilitate the description of sequence variants on transcript NM_001080467.2 in the MYO5B gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012925.1, covering MYO5B transcript NM_001080467.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5048
             gcctcctccccacacctgggaggggagtggtgcggcgcggcctcctcc       c.-241

 .         .         .         .         .         .                g.5108
 cccggcgctcgcaactcctgtccggccgtagctgcgccgccgcggcgggagtaaaggtcg       c.-181

 .         .         .         .         .         .                g.5168
 cgccgccgggagcgagccggccgcggcgcctgcgggaagccggcggggcaggtcggagaa       c.-121

 .         .         .         .         .         .                g.5228
 gagcgagaagatcgagaaactccaggccagcccgggaacatggcgccaggcgggccagcc       c.-61

 .         .         .         .         .         .                g.5288
 gcggactgagagccgcggggcagccaggagccggggcccgagccccgcccggcccgggcc       c.-1

          .         .        | 02.         .         .         .    g.144736
 ATGTCGGTGGGCGAGCTCTACAGCCAG | TGCACAAGGGTCTGGATCCCTGACCCTGATGAG    c.60
 M  S  V  G  E  L  Y  S  Q   | C  T  R  V  W  I  P  D  P  D  E      p.20

          .         .         .         .         .         .       g.144796
 GTATGGCGCTCAGCTGAGTTAACCAAGGACTACAAAGAAGGAGACAAGAGCCTACAGCTC       c.120
 V  W  R  S  A  E  L  T  K  D  Y  K  E  G  D  K  S  L  Q  L         p.40

          .         | 03         .         .         .         .    g.159809
 AGACTGGAGGATGAAACG | ATTCTGGAATACCCAATTGATGTACAACGCAACCAGCTGCCC    c.180
 R  L  E  D  E  T   | I  L  E  Y  P  I  D  V  Q  R  N  Q  L  P      p.60

          .         .         .         .         .         .       g.159869
 TTCTTACGGAATCCAGATATCTTGGTGGGAGAAAATGACCTGACTGCCCTTAGCTATCTT       c.240
 F  L  R  N  P  D  I  L  V  G  E  N  D  L  T  A  L  S  Y  L         p.80

          .         .         .         .         .         .       g.159929
 CATGAGCCTGCAGTTTTGCATAATTTGAAGGTCCGTTTCCTGGAGTCCAACCATATCTAC       c.300
 H  E  P  A  V  L  H  N  L  K  V  R  F  L  E  S  N  H  I  Y         p.100

          . | 04       .         .         .         .         .    g.163137
 ACTTACTGTG | GTATCGTACTTGTTGCCATTAATCCTTATGAACAGTTGCCAATCTATGGA    c.360
 T  Y  C  G |   I  V  L  V  A  I  N  P  Y  E  Q  L  P  I  Y  G      p.120

          .         .         .         .         .         .       g.163197
 CAAGATGTCATCTATACCTACAGTGGCCAAAACATGGGAGACATGGACCCCCACATCTTT       c.420
 Q  D  V  I  Y  T  Y  S  G  Q  N  M  G  D  M  D  P  H  I  F         p.140

          .         .         .      | 05  .         .         .    g.198695
 GCTGTGGCAGAAGAAGCCTACAAGCAGATGGCCAG | AGATGAGAAGAATCAGTCCATCATA    c.480
 A  V  A  E  E  A  Y  K  Q  M  A  R  |  D  E  K  N  Q  S  I  I      p.160

          .         .         .         .         .         .       g.198755
 GTCAGTGGGGAGTCTGGAGCCGGGAAGACGGTATCAGCCAAGTATGCCATGCGCTATTTC       c.540
 V  S  G  E  S  G  A  G  K  T  V  S  A  K  Y  A  M  R  Y  F         p.180

          .         .         .         .         .         .       g.198815
 GCCACCGTTGGTGGCTCGGCCAGTGAAACCAACATCGAAGAGAAGGTGCTGGCATCCAGT       c.600
 A  T  V  G  G  S  A  S  E  T  N  I  E  E  K  V  L  A  S  S         p.200

          .   | 06     .         .         .         .         .    g.207698
 CCCATCATGGAG | GCCATTGGAAATGCCAAGACCACCCGCAATGACAACAGCAGCCGTTTT    c.660
 P  I  M  E   | A  I  G  N  A  K  T  T  R  N  D  N  S  S  R  F      p.220

          .         .         .         .         .         .       g.207758
 GGCAAGTACATCCAGATTGGCTTTGACAAAAGGTACCACATCATCGGGGCCAACATGAGG       c.720
 G  K  Y  I  Q  I  G  F  D  K  R  Y  H  I  I  G  A  N  M  R         p.240

          .         .         .       | 07 .         .         .    g.209585
 ACTTACCTCTTGGAGAAGTCCAGAGTGGTCTTCCAG | GCAGATGATGAGAGGAATTACCAC    c.780
 T  Y  L  L  E  K  S  R  V  V  F  Q   | A  D  D  E  R  N  Y  H      p.260

          .         .         .         .         .         | 08    g.215258
 ATCTTTTACCAGCTCTGTGCTGCTGCCGGTCTTCCAGAATTTAAAGAGCTTGCACTAA | CA    c.840
 I  F  Y  Q  L  C  A  A  A  G  L  P  E  F  K  E  L  A  L  T |       p.280

          .         .         .         .         .         .       g.215318
 AGTGCAGAGGACTTTTTCTATACATCACAGGGAGGAGACACTTCCATCGAGGGTGTGGAC       c.900
 S  A  E  D  F  F  Y  T  S  Q  G  G  D  T  S  I  E  G  V  D         p.300

          .         .         .         .       | 09 .         .    g.219542
 GATGCTGAGGACTTTGAGAAGACTCGACAAGCCTTCACACTCCTCG | GAGTGAAAGAGTCC    c.960
 D  A  E  D  F  E  K  T  R  Q  A  F  T  L  L  G |   V  K  E  S      p.320

          .         .         .         .         .         .       g.219602
 CATCAGATGAGCATTTTTAAGATAATTGCTTCTATCTTGCACCTTGGAAGTGTGGCGATT       c.1020
 H  Q  M  S  I  F  K  I  I  A  S  I  L  H  L  G  S  V  A  I         p.340

          .         .         .       | 10 .         .         .    g.225490
 CAGGCTGAGCGTGATGGTGATTCCTGTAGTATATCA | CCCCAGGATGTATACCTAAGCAAC    c.1080
 Q  A  E  R  D  G  D  S  C  S  I  S   | P  Q  D  V  Y  L  S  N      p.360

          .         .         .         .         .         .       g.225550
 TTCTGCCGACTGCTAGGGGTGGAGCACAGTCAGATGGAGCACTGGCTGTGTCATCGCAAG       c.1140
 F  C  R  L  L  G  V  E  H  S  Q  M  E  H  W  L  C  H  R  K         p.380

          .         .         .         .         .         .       g.225610
 CTGGTCACCACCTCGGAGACCTACGTCAAGACCATGTCCCTGCAGCAGGTGATCAATGCG       c.1200
 L  V  T  T  S  E  T  Y  V  K  T  M  S  L  Q  Q  V  I  N  A         p.400

          .         .         .         .         .         .       g.225670
 CGCAACGCCCTGGCGAAGCACATCTATGCCCAGTTGTTCGGCTGGATTGTGGAGCACATC       c.1260
 R  N  A  L  A  K  H  I  Y  A  Q  L  F  G  W  I  V  E  H  I         p.420

          .         .         .         .         .         .       g.225730
 AACAAGGCCCTGCACACCTCCCTCAAGCAGCACTCCTTCATCGGGGTCCTGGACATCTAT       c.1320
 N  K  A  L  H  T  S  L  K  Q  H  S  F  I  G  V  L  D  I  Y         p.440

    | 11     .         .         .         .         .         .    g.237109
 GG | GTTTGAGACATTTGAGGTAAACAGCTTTGAGCAGTTCTGTATCAACTATGCAAATGAA    c.1380
 G  |  F  E  T  F  E  V  N  S  F  E  Q  F  C  I  N  Y  A  N  E      p.460

          .         .     | 12   .         .         .         .    g.237711
 AAGCTCCAGCAGCAGTTCAACTCG | CATGTTTTCAAACTGGAGCAAGAAGAATACATGAAG    c.1440
 K  L  Q  Q  Q  F  N  S   | H  V  F  K  L  E  Q  E  E  Y  M  K      p.480

          .         .         .         .         .         .       g.237771
 GAACAGATCCCTTGGACCCTGATTGATTTTTATGATAACCAACCTTGTATCGACCTCATT       c.1500
 E  Q  I  P  W  T  L  I  D  F  Y  D  N  Q  P  C  I  D  L  I         p.500

          .         .         .         .      | 13  .         .    g.245661
 GAAGCCAAGCTGGGTATCTTGGACCTGTTGGATGAAGAATGTAAG | GTCCCCAAAGGAACT    c.1560
 E  A  K  L  G  I  L  D  L  L  D  E  E  C  K   | V  P  K  G  T      p.520

          .         .         .         .         .         .       g.245721
 GACCAGAACTGGGCTCAGAAGCTCTATGACCGGCACTCCAGCAGCCAGCACTTCCAGAAG       c.1620
 D  Q  N  W  A  Q  K  L  Y  D  R  H  S  S  S  Q  H  F  Q  K         p.540

          .         .         .         .         | 14         .    g.246750
 CCCCGCATGTCCAACACGGCCTTCATCATCGTCCACTTTGCAGACAAG | GTGGAGTACCTC    c.1680
 P  R  M  S  N  T  A  F  I  I  V  H  F  A  D  K   | V  E  Y  L      p.560

          .         .         .         .         .         .       g.246810
 TCTGATGGTTTTCTGGAGAAAAACAGAGACACGGTGTATGAAGAGCAGATCAATATCCTG       c.1740
 S  D  G  F  L  E  K  N  R  D  T  V  Y  E  E  Q  I  N  I  L         p.580

          .   | 15     .         .         .         .         .    g.262732
 AAGGCCAGCAAG | TTCCCACTAGTGGCTGACTTGTTTCATGATGACAAGGACCCTGTTCCT    c.1800
 K  A  S  K   | F  P  L  V  A  D  L  F  H  D  D  K  D  P  V  P      p.600

          .         .         .         .         .         .       g.262792
 GCCACCACCCCTGGGAAGGGGTCATCTTCGAAGATCAGCGTCCGTTCTGCCAGACCCCCC       c.1860
 A  T  T  P  G  K  G  S  S  S  K  I  S  V  R  S  A  R  P  P         p.620

          .         .         .         .      | 16  .         .    g.263747
 ATGAAAGTCTCCAACAAGGAGCACAAGAAAACCGTTGGCCACCAG | TTCCGTACCTCCCTG    c.1920
 M  K  V  S  N  K  E  H  K  K  T  V  G  H  Q   | F  R  T  S  L      p.640

          .         .         .         .         .         .       g.263807
 CATCTGCTCATGGAGACCCTGAATGCCACGACACCTCACTATGTCCGCTGCATCAAGCCC       c.1980
 H  L  L  M  E  T  L  N  A  T  T  P  H  Y  V  R  C  I  K  P         p.660

          .         .    | 17    .         .         .         .    g.270520
 AACGATGAGAAGCTCCCCTTTCA | CTTTGACCCAAAGAGAGCAGTGCAGCAACTCAGAGCC    c.2040
 N  D  E  K  L  P  F  H  |  F  D  P  K  R  A  V  Q  Q  L  R  A      p.680

          .         .         .         .         . | 18       .    g.287918
 TGCGGGGTGTTGGAGACGATTCGAATCAGTGCAGCTGGCTACCCATCCAG | GTGGGCCTAC    c.2100
 C  G  V  L  E  T  I  R  I  S  A  A  G  Y  P  S  R  |  W  A  Y      p.700

          .         .         .         .         .         .       g.287978
 CATGACTTTTTCAACCGGTATCGGGTGCTGGTCAAGAAGAGAGAGCTCGCCAACACAGAC       c.2160
 H  D  F  F  N  R  Y  R  V  L  V  K  K  R  E  L  A  N  T  D         p.720

          .         .         .         .   | 19     .         .    g.293469
 AAAAAGGCCATCTGCAGGTCTGTCCTGGAGAACCTCATCAAG | GACCCCGACAAGTTCCAG    c.2220
 K  K  A  I  C  R  S  V  L  E  N  L  I  K   | D  P  D  K  F  Q      p.740

          .         .         .         .         .         .       g.293529
 TTTGGCCGCACCAAGATCTTCTTTCGAGCAGGCCAGGTGGCCTACCTGGAGAAGCTGCGG       c.2280
 F  G  R  T  K  I  F  F  R  A  G  Q  V  A  Y  L  E  K  L  R         p.760

          .         .         .         .         .         .       g.293589
 GCTGACAAGTTCCGGACAGCCACCATCATGATCCAGAAAACTGTCCGGGGATGGCTGCAG       c.2340
 A  D  K  F  R  T  A  T  I  M  I  Q  K  T  V  R  G  W  L  Q         p.780

          .         .         .         .         .         .       g.293649
 AAGGTGAAATATCACAGGCTGAAGGGGGCTACCTTAACCCTGCAGAGGTACTGCCGGGGA       c.2400
 K  V  K  Y  H  R  L  K  G  A  T  L  T  L  Q  R  Y  C  R  G         p.800

          .     | 20   .         .         .         .         .    g.295299
 CACCTGGCCCGCAG | GCTGGCTGAGCACCTGCGGAGGATCAGAGCGGCTGTGGTGCTCCAG    c.2460
 H  L  A  R  R  |  L  A  E  H  L  R  R  I  R  A  A  V  V  L  Q      p.820

          .         .         .         .         .         .       g.295359
 AAACATTACCGCATGCAGAGGGCCCGCCAGGCCTACCAGAGGGTCCGCAGAGCTGCCGTT       c.2520
 K  H  Y  R  M  Q  R  A  R  Q  A  Y  Q  R  V  R  R  A  A  V         p.840

          .         .         .         .         .  | 21      .    g.297257
 GTTATCCAGGCCTTCACCCGGGCCATGTTTGTGCGGAGAACCTACCGCCAG | GTCCTCATG    c.2580
 V  I  Q  A  F  T  R  A  M  F  V  R  R  T  Y  R  Q   | V  L  M      p.860

          .         .         .         .         .         .       g.297317
 GAGCACAAGGCCACCACCATCCAGAAGCACGTGCGGGGCTGGATGGCACGCAGGCACTTC       c.2640
 E  H  K  A  T  T  I  Q  K  H  V  R  G  W  M  A  R  R  H  F         p.880

          .         .         .         .         .         .       g.297377
 CAGCGGCTGCGGGATGCAGCCATTGTCATCCAGTGTGCCTTCCGGATGCTCAAGGCCAGG       c.2700
 Q  R  L  R  D  A  A  I  V  I  Q  C  A  F  R  M  L  K  A  R         p.900

          .         .         .         .         .         .       g.297437
 CGGGAGCTGAAGGCCCTCAGGATTGAGGCCCGCTCAGCAGAGCATCTGAAACGTCTCAAC       c.2760
 R  E  L  K  A  L  R  I  E  A  R  S  A  E  H  L  K  R  L  N         p.920

          .         .         .         .         .  | 22      .    g.304916
 GTGGGCATGGAGAACAAGGTGGTCCAGCTGCAGCGGAAGATCGATGAGCAG | AACAAAGAG    c.2820
 V  G  M  E  N  K  V  V  Q  L  Q  R  K  I  D  E  Q   | N  K  E      p.940

          .         .         .         .         .         .       g.304976
 TTCAAGACACTTTCAGAGCAGTTGTCCGTGACCACCTCAACATACACCATGGAGGTAGAG       c.2880
 F  K  T  L  S  E  Q  L  S  V  T  T  S  T  Y  T  M  E  V  E         p.960

          .         .         .         .         .         .       g.305036
 CGGCTGAAGAAGGAGCTGGTGCACTACCAGCAGAGCCCAGGTGAGGACACCAGCCTCAGG       c.2940
 R  L  K  K  E  L  V  H  Y  Q  Q  S  P  G  E  D  T  S  L  R         p.980

          .         .         .         .         .         .       g.305096
 CTGCAGGAGGAGGTGGAGAGCCTGCGCACAGAGCTGCAGAGGGCCCACTCGGAGCGCAAG       c.3000
 L  Q  E  E  V  E  S  L  R  T  E  L  Q  R  A  H  S  E  R  K         p.1000

          .         .         .         .      | 23  .         .    g.319641
 ATCTTGGAGGACGCCCACAGCAGGGAGAAAGATGAGCTGAGGAAG | CGAGTTGCAGACCTG    c.3060
 I  L  E  D  A  H  S  R  E  K  D  E  L  R  K   | R  V  A  D  L      p.1020

          .         .         .         .         .         .       g.319701
 GAGCAAGAAAATGCTCTCTTGAAAGATGAGAAAGAACAGCTCAACAACCAAATCCTGTGC       c.3120
 E  Q  E  N  A  L  L  K  D  E  K  E  Q  L  N  N  Q  I  L  C         p.1040

          . | 24       .         .         .         .         .    g.321041
 CAGTCTAAAG | ATGAATTTGCCCAGAACTCTGTGAAGGAAAATCTCATGAAGAAAGAACTG    c.3180
 Q  S  K  D |   E  F  A  Q  N  S  V  K  E  N  L  M  K  K  E  L      p.1060

          .         .         .         .         .         .       g.321101
 GAGGAGGAGCGATCCCGGTACCAGAACCTTGTGAAGGAATATTCACAGTTGGAGCAGAGA       c.3240
 E  E  E  R  S  R  Y  Q  N  L  V  K  E  Y  S  Q  L  E  Q  R         p.1080

          .         .         .       | 25 .         .         .    g.322223
 TACGACAACCTTCGGGATGAAATGACCATCATAAAG | CAAACTCCAGGTCATAGGCGGAAC    c.3300
 Y  D  N  L  R  D  E  M  T  I  I  K   | Q  T  P  G  H  R  R  N      p.1100

          .         .         .         .         .         .       g.322283
 CCATCAAACCAAAGTAGCTTAGAATCTGACTCCAATTACCCCTCCATCTCCACATCTGAG       c.3360
 P  S  N  Q  S  S  L  E  S  D  S  N  Y  P  S  I  S  T  S  E         p.1120

          .         .         .       | 26 .         .         .    g.324278
 ATCGGAGACACTGAGGATGCCCTCCAGCAGGTGGAG | GAAATTGGCCTGGAGAAGGCAGCC    c.3420
 I  G  D  T  E  D  A  L  Q  Q  V  E   | E  I  G  L  E  K  A  A      p.1140

          .         .         .         .         .         .       g.324338
 ATGGACATGACGGTCTTCCTGAAGCTGCAGAAGAGAGTACGGGAGCTGGAGCAGGAGAGG       c.3480
 M  D  M  T  V  F  L  K  L  Q  K  R  V  R  E  L  E  Q  E  R         p.1160

          .         .         .         .         .        | 27.    g.327852
 AAAAAGCTGCAAGTGCAGCTGGAGAAGAGAGAACAGCAGGACAGCAAGAAAGTCCAG | GCG    c.3540
 K  K  L  Q  V  Q  L  E  K  R  E  Q  Q  D  S  K  K  V  Q   | A      p.1180

          .         .         .         .         .         .       g.327912
 GAACCACCACAGACTGACATAGATTTGGACCCGAATGCAGATCTGGCCTACAATAGTCTG       c.3600
 E  P  P  Q  T  D  I  D  L  D  P  N  A  D  L  A  Y  N  S  L         p.1200

     | 28    .         .         .         .         .         .    g.335758
 AAG | AGGCAAGAGCTGGAGTCAGAGAACAAAAAGCTGAAGAATGACCTGAATGAGCTGAGG    c.3660
 K   | R  Q  E  L  E  S  E  N  K  K  L  K  N  D  L  N  E  L  R      p.1220

          .         .         .         .         .         .       g.335818
 AAAGCCGTGGCCGACCAAGCCACGCAGAATAACTCCAGCCACGGCTCCCCAGATAGCTAC       c.3720
 K  A  V  A  D  Q  A  T  Q  N  N  S  S  H  G  S  P  D  S  Y         p.1240

          .         .         .         .         .         .       g.335878
 AGCCTCCTGCTGAACCAGCTCAAGCTGGCCCACGAGGAGCTCGAGGTGCGCAAGGAGGAG       c.3780
 S  L  L  L  N  Q  L  K  L  A  H  E  E  L  E  V  R  K  E  E         p.1260

          .         .         .         .         .         .       g.335938
 GTGCTCATCCTCAGGACCCAGATCGTGAGCGCCGACCAGCGGCGACTCGCCGGCAGGAAC       c.3840
 V  L  I  L  R  T  Q  I  V  S  A  D  Q  R  R  L  A  G  R  N         p.1280

     | 29    .         .         .         .         .         .    g.336811
 GCG | GAGCCGAACATTAATGCCAGATCAAGTTGGCCTAACAGTGAAAAGCATGTTGACCAG    c.3900
 A   | E  P  N  I  N  A  R  S  S  W  P  N  S  E  K  H  V  D  Q      p.1300

          .         .         .         .     | 30   .         .    g.343207
 GAGGATGCCATTGAGGCCTATCACGGGGTCTGCCAGACAAACAG | CAAGACTGAGGATTGG    c.3960
 E  D  A  I  E  A  Y  H  G  V  C  Q  T  N  S  |  K  T  E  D  W      p.1320

          .         .         .         .         .         .       g.343267
 GGATATTTAAATGAAGATGGAGAACTCGGCTTGGCCTACCAAGGCCTAAAGCAAGTTGCC       c.4020
 G  Y  L  N  E  D  G  E  L  G  L  A  Y  Q  G  L  K  Q  V  A         p.1340

    | 31     .         .         .         .         .         .    g.346492
 AG | GCTGCTGGAGGCTCAGCTGCAGGCCCAGAGCCTGGAGCATGAGGAGGAGGTGGAGCAT    c.4080
 R  |  L  L  E  A  Q  L  Q  A  Q  S  L  E  H  E  E  E  V  E  H      p.1360

          .         .         .         .         .         .       g.346552
 CTCAAGGCTCAGCTCGAGGCCCTGAAGGAGGAGATGGACAAACAGCAGCAGACCTTCTGC       c.4140
 L  K  A  Q  L  E  A  L  K  E  E  M  D  K  Q  Q  Q  T  F  C         p.1380

          .         .         .         .         .         .       g.346612
 CAGACGCTACTGCTCTCCCCAGAGGCCCAGGTGGAATTCGGCGTTCAGCAGGAAATATCC       c.4200
 Q  T  L  L  L  S  P  E  A  Q  V  E  F  G  V  Q  Q  E  I  S         p.1400

          .         .  | 32      .         .         .         .    g.350460
 CGGCTGACCAACGAGAATCTG | GACCTTAAAGAACTGGTAGAAAAGCTGGAAAAGAATGAG    c.4260
 R  L  T  N  E  N  L   | D  L  K  E  L  V  E  K  L  E  K  N  E      p.1420

          .         .         .         .         .      | 33  .    g.352797
 AGGAAGCTCAAAAAGCAACTGAAGATTTACATGAAGAAAGCCCAGGACCTAGAAG | CTGCC    c.4320
 R  K  L  K  K  Q  L  K  I  Y  M  K  K  A  Q  D  L  E  A |   A      p.1440

          .         .         .         .         .         .       g.352857
 CAGGCATTGGCCCAGAGTGAGAGGAAGCGCCATGAGCTCAACAGGCAGGTCACGGTCCAG       c.4380
 Q  A  L  A  Q  S  E  R  K  R  H  E  L  N  R  Q  V  T  V  Q         p.1460

          .         .         .         .         .         .       g.352917
 CGGAAAGAGAAGGATTTCCAGGGCATGCTGGAGTACCACAAAGAGGACGAGGCCCTCCTC       c.4440
 R  K  E  K  D  F  Q  G  M  L  E  Y  H  K  E  D  E  A  L  L         p.1480

          .          | 34        .         .         .         .    g.356730
 ATCCGGAACCTGGTGACAG | ACTTGAAGCCCCAGATGCTGTCGGGCACAGTGCCCTGTCTC    c.4500
 I  R  N  L  V  T  D |   L  K  P  Q  M  L  S  G  T  V  P  C  L      p.1500

          .         .         .         .         .         .       g.356790
 CCCGCCTACATCCTCTACATGTGCATCCGGCACGCGGACTACACCAACGACGATCTCAAG       c.4560
 P  A  Y  I  L  Y  M  C  I  R  H  A  D  Y  T  N  D  D  L  K         p.1520

          .         .         .         .         .  | 35      .    g.358636
 GTGCACTCCCTGCTGACCTCCACCATCAACGGCATTAAGAAAGTCCTGAAA | AAGCACAAT    c.4620
 V  H  S  L  L  T  S  T  I  N  G  I  K  K  V  L  K   | K  H  N      p.1540

          .         .         .         .         .         .       g.358696
 GATGACTTTGAGATGACGTCATTCTGGTTATCCAACACCTGCCGCCTTCTTCACTGTCTG       c.4680
 D  D  F  E  M  T  S  F  W  L  S  N  T  C  R  L  L  H  C  L         p.1560

          .         .  | 36      .         .         .         .    g.360826
 AAGCAGTACAGCGGGGATGAG | GGCTTCATGACTCAGAACACTGCAAAGCAGAATGAACAC    c.4740
 K  Q  Y  S  G  D  E   | G  F  M  T  Q  N  T  A  K  Q  N  E  H      p.1580

          .         .         .         .         .         .       g.360886
 TGTCTTAAGAATTTTGACCTCACCGAATACCGTCAGGTGCTGAGTGACCTTTCCATTCAG       c.4800
 C  L  K  N  F  D  L  T  E  Y  R  Q  V  L  S  D  L  S  I  Q         p.1600

          .         .         .         .         .   | 37     .    g.362287
 ATCTACCAGCAGCTCATTAAAATTGCCGAGGGCGTGTTACAGCCGATGATAG | TTTCTGCC    c.4860
 I  Y  Q  Q  L  I  K  I  A  E  G  V  L  Q  P  M  I  V |   S  A      p.1620

          .         .         .         .         .         .       g.362347
 ATGTTGGAAAATGAGAGCATTCAGGGTCTATCTGGTGTGAAGCCCACCGGCTACCGGAAG       c.4920
 M  L  E  N  E  S  I  Q  G  L  S  G  V  K  P  T  G  Y  R  K         p.1640

          .         .         .         .         .         .       g.362407
 CGCTCCTCCAGCATGGCAGATGGGGATAACTCATACTGCCTGGAAGCTATCATCCGCCAG       c.4980
 R  S  S  S  M  A  D  G  D  N  S  Y  C  L  E  A  I  I  R  Q         p.1660

          .         .         .         .         .         .       g.362467
 ATGAATGCCTTTCATACAGTCATGTGTGACCAGGGCTTGGACCCTGAGATCATCCTGCAG       c.5040
 M  N  A  F  H  T  V  M  C  D  Q  G  L  D  P  E  I  I  L  Q         p.1680

          .         .         .         .         .         .       g.362527
 GTATTCAAACAGCTCTTCTACATGATCAACGCAGTGACTCTTAACAACCTGCTCTTGCGG       c.5100
 V  F  K  Q  L  F  Y  M  I  N  A  V  T  L  N  N  L  L  L  R         p.1700

          .         .         .         | 38         .         .    g.363218
 AAGGACGTCTGCTCTTGGAGCACAGGCATGCAACTCAG | GTACAATATAAGTCAGCTTGAG    c.5160
 K  D  V  C  S  W  S  T  G  M  Q  L  R  |  Y  N  I  S  Q  L  E      p.1720

          .         .         .         .         .         .       g.363278
 GAGTGGCTTCGGGGAAGAAACCTTCACCAGAGTGGAGCAGTTCAGACCATGGAACCTCTG       c.5220
 E  W  L  R  G  R  N  L  H  Q  S  G  A  V  Q  T  M  E  P  L         p.1740

          .         .         .         .         .         .       g.363338
 ATCCAAGCAGCCCAGCTCCTGCAATTAAAGAAGAAAACCCAGGAGGACGCAGAGGCTATC       c.5280
 I  Q  A  A  Q  L  L  Q  L  K  K  K  T  Q  E  D  A  E  A  I         p.1760

          .         .         .    | 39    .         .         .    g.364684
 TGCTCCCTGTGTACCTCCCTCAGCACCCAGCAG | ATTGTCAAAATTTTAAACCTTTATACT    c.5340
 C  S  L  C  T  S  L  S  T  Q  Q   | I  V  K  I  L  N  L  Y  T      p.1780

          .         .         .         .         .     | 40   .    g.373464
 CCCCTGAATGAATTTGAAGAACGGGTAACAGTGGCCTTTATACGAACAATCCAG | GCACAA    c.5400
 P  L  N  E  F  E  E  R  V  T  V  A  F  I  R  T  I  Q   | A  Q      p.1800

          .         .         .         .         .         .       g.373524
 CTACAAGAGCGGAATGACCCTCAGCAACTGCTATTAGATGCCAAGCACATGTTTCCTGTT       c.5460
 L  Q  E  R  N  D  P  Q  Q  L  L  L  D  A  K  H  M  F  P  V         p.1820

          .         .         .         .         .         .       g.373584
 TTGTTTCCATTTAATCCATCTTCTCTAACCATGGACTCAATCCACATCCCAGCGTGTCTC       c.5520
 L  F  P  F  N  P  S  S  L  T  M  D  S  I  H  I  P  A  C  L         p.1840

          .         .                                               g.373611
 AATCTGGAATTCCTCAATGAAGTCTGA                                        c.5547
 N  L  E  F  L  N  E  V  X                                          p.1848

          .         .         .         .         .         .       g.373671
 agatgcatgtttccagcattagtttgattcccaatgtgagcaagaaggaagtatatacag       c.*60

          .         .         .         .         .         .       g.373731
 taaagtaaattcaaggatctgttaaatctggtaaaagtagatcaaatcagagattgacag       c.*120

          .         .         .         .         .         .       g.373791
 cctgtggagggtgctgaactatacagaattagacacaactatgtcattattttttgtacc       c.*180

          .         .         .         .         .         .       g.373851
 tactgctcagaataaaaacacttgaaatatggaagattttaagtttgatttcagtccaac       c.*240

          .         .         .         .         .         .       g.373911
 acatatacataatttatagacaccaagcagtccccatagacatataaaaggtgtcaattc       c.*300

          .         .         .         .         .         .       g.373971
 tataaaacgaagctgcctagttttgatctttgcatagaactagagaatgtccaaattaaa       c.*360

          .         .         .         .         .         .       g.374031
 ataccaaatatatataagtcacataaattgccttcaaagggctttaacaaataatggtac       c.*420

          .         .         .         .         .         .       g.374091
 taataaccatgataatggcatatactgacatttcccaaagtttgcaaaccataggtgtgg       c.*480

          .         .         .         .         .         .       g.374151
 ttgagtttgtggtgagatgttttaagaacaaaaatatggggatgagacttctgagaaata       c.*540

          .         .         .         .         .         .       g.374211
 ttcccaaaatattttttaatggctgattatacacagacagtggtgtaactgacctccaga       c.*600

          .         .         .         .         .         .       g.374271
 ccagacattttgagtactggtttctgaagcaaaattagaagtgccagtcctcagtgtgct       c.*660

          .         .         .         .         .         .       g.374331
 caaacgcttttgtgttatcttgatttaatggaagagattattaaaatgctgctatcccaa       c.*720

          .         .         .         .         .         .       g.374391
 actccaagtgagaaagatggaaaaatattttgtttctgatgctagtccatacactttcca       c.*780

          .         .         .         .         .         .       g.374451
 agtcccacaaaactttcacaaaaatgtatataagctaaatattagaaacggataacaaac       c.*840

          .         .         .         .         .         .       g.374511
 ttgttttatttatagatgtaaaaaccaaacaagtcaatatgaaagcttttaatctcttaa       c.*900

          .         .         .         .         .         .       g.374571
 taccattaagcttccagtaagagcatcacataatgctctactgttccagaaaccaaatag       c.*960

          .         .         .         .         .         .       g.374631
 taaaacaaactaaagttcgcacatcagatcatctgaaaaaccttcaaaaataatcagttc       c.*1020

          .         .         .         .         .         .       g.374691
 agggatattatacaaaagtttgggttttttttttttaagagaataaaatggcttaggtca       c.*1080

          .         .         .         .         .         .       g.374751
 actttcccttttcaggttattttcaacgtttttcaaatttagcacacaaaaaattgtaaa       c.*1140

          .         .         .         .         .         .       g.374811
 tatctctcccacaaaataaggattttaaaaaagtaattcagtaatataacaggcttagat       c.*1200

          .         .         .         .         .         .       g.374871
 gtttgctgctcttagaattttttttaacttgtttttggtttcttcaaaagcaagcattca       c.*1260

          .         .         .         .         .         .       g.374931
 attggaaacccatattctttccacacttttttttactgtcttttctgtatttcttgatag       c.*1320

          .         .         .         .         .         .       g.374991
 cagtatgctgttcccataagaaaaaaatggtatttgcaaatcatggaagaacagcctctg       c.*1380

          .         .         .         .         .         .       g.375051
 tattacattgagaaaataagatttatccatgaattggaagtagaacagcctgccttcacc       c.*1440

          .         .         .         .         .         .       g.375111
 ctcttttactcaaccacccaacttaaaaggctcttggaaacacagcacactccacgctac       c.*1500

          .         .         .         .         .         .       g.375171
 cttctgcactgtgcccttagagcacagcttcctcagttgttctctgcatctcctggggct       c.*1560

          .         .         .         .         .         .       g.375231
 taggccagtcttagcctgggttaaggctgctgacattgtgttccaatcagttgtcatggg       c.*1620

          .         .         .         .         .         .       g.375291
 cattatcccctctacatccacattaaacatgccggcttctcttgggcatcggcagagctg       c.*1680

          .         .         .         .         .         .       g.375351
 tgcctttttctttcagttacagttacataatcactgacgtccatgacacttacccatgga       c.*1740

          .         .         .         .         .         .       g.375411
 tccatgtgctgacttcatttagaaggccaatctaaaacaactgggtttgtggctacctct       c.*1800

          .         .         .         .         .         .       g.375471
 ttaaagttgtttgtgaaggataatttgttttttaatgcactttagtttgaaagtgagtct       c.*1860

          .         .         .         .         .         .       g.375531
 cttatgtaaggaccatccttaaaagaccaaaaatgccttgttagagtgttaaggagtttt       c.*1920

          .         .         .         .         .         .       g.375591
 gacatgcagtggttccacaaacacagtggcttactatccttatacactgtcttataccat       c.*1980

          .         .         .         .         .         .       g.375651
 cattctctccatctctcttggtcactactctctgctgtcactggttaatcactaggtgcc       c.*2040

          .         .         .         .         .         .       g.375711
 aagagcttactgaataaaagcttggcaattagaataaatggggagggaaggaccttatga       c.*2100

          .         .         .         .         .         .       g.375771
 atagtccatttagcctaagaaatggcagatttagttcttctcttccaaaagataaaggta       c.*2160

          .         .         .         .         .         .       g.375831
 tatcctggaattgtacttaaaacttacagatgactaacaaatatatactttatatgtagt       c.*2220

          .         .         .         .         .         .       g.375891
 taatatttagatctgtcttatttaatacttggaggctagaagaagcatctttaggggaac       c.*2280

          .         .         .         .         .         .       g.375951
 tatataatcttttgttagcattttctctgcattttaaaaaatcatttcaattcaaacatt       c.*2340

          .         .         .         .         .         .       g.376011
 tatcagtgtcatgaaatcagtaatgactctttaacaattcaggtttgaactctgcattag       c.*2400

          .         .         .         .         .         .       g.376071
 atgtctctttaattttttaatatttaaaatttagttgacatttttttcaccaggtgcctt       c.*2460

          .         .         .         .         .         .       g.376131
 tagcggttactaagataactgacatcagttgtttctctgaaataagtgttgctgtgggaa       c.*2520

          .         .         .         .         .         .       g.376191
 taattttaatgttcaaggtgatatcatgggggagttttgtcttttaaaacattagaagca       c.*2580

          .         .         .         .         .         .       g.376251
 ttttaaatattaagaatcaaatatttatagatcaaaacttgtgttttaagtattatacgg       c.*2640

          .         .         .         .         .         .       g.376311
 gacctgtttacttatagtaaatgtgaatgtacacatgagttgttgctgaagctgacaagc       c.*2700

          .         .         .         .         .         .       g.376371
 atattacatacatgcattttccctgtgccctcatagttgcagttagagttccagtacctg       c.*2760

          .         .         .         .         .         .       g.376431
 taggctcacctgggaggcagattagacccaaaggtagatgtttttcccctttccatgaag       c.*2820

          .         .         .         .         .         .       g.376491
 catgtcagtgggagttgcttcctttgatttccctagtactaaattttaaggcttttgtaa       c.*2880

          .         .         .         .         .         .       g.376551
 aaacaaaacaaaactaggagcttggaacagttaaaaatcaacactgctaccatcaattca       c.*2940

          .         .         .         .         .         .       g.376611
 tcaaatatttacttagagctttcatacattaagattccagtaaccaataaattagaattc       c.*3000

          .         .         .         .         .         .       g.376671
 atttcttctgcataaagtaaattttcatacacttgacctactaagacagcaagggtgtcc       c.*3060

          .         .         .         .         .         .       g.376731
 taaattgaggcatttgtataatgcctgcataactaaatggtcactaaaatgggacagcat       c.*3120

          .         .         .         .         .         .       g.376791
 ggggcaagaccttgtagttcttcacagaatatttgtggtcagtttctccaattaatttgc       c.*3180

          .         .         .         .         .         .       g.376851
 tgcatgagccaaataaccataattcactttttatacccactggtgccataattagagaat       c.*3240

          .         .         .         .         .         .       g.376911
 tagagggtgtagacagaggttaatgccaatgagaaacacaggacagggttttttttatta       c.*3300

          .         .         .         .         .         .       g.376971
 taaaggtcattagatacaaaagattgtttttcaaaaaatttctaattctaacaaagggga       c.*3360

          .         .         .         .         .         .       g.377031
 tcaatcagaaatgaaactaagctactttctaaagtgacactgtatcagaataatccagat       c.*3420

          .         .         .         .         .         .       g.377091
 ttgaatataacattttgccaccaactgacatttagatgaaggactgcctctctgaaagag       c.*3480

          .         .         .         .         .         .       g.377151
 ttcagatcatattcaggggtgaatccaacaccatggaagaaagactactgatgaaaatat       c.*3540

          .         .         .         .         .         .       g.377211
 tttcccactttgcacaaatctgtaaactacacctttgtttatagaaaaatgcttgtaata       c.*3600

          .         .         .         .         .         .       g.377271
 gtcactgtaatatttagctgtggataaaaatttgtggaaataaatacttttgaataaaga       c.*3660

          .         .                                               g.377296
 ggtgtgccaaatctaaatgaaattt                                          c.*3685

 (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 VB 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 variants, 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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