myosin light chain kinase (MYLK) - coding DNA reference sequence

(used for variant description)

(last modified August 20, 2014)


This file was created to facilitate the description of sequence variants on transcript NM_053025.3 in the MYLK gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_029111.1, covering MYLK transcript NM_053025.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5042
                   ggcgctgagcgagctcggagcccgcgctgtgcgcctgcggcc       c.-241

 .         .         .         .         .         .     | 02       g.12690
 ggggcgccccgccgagcgccggtgccccggctcccgggccgccttcgccgcgcgg | gaagg    c.-181

 .         .         .         .         .         .    | 03        g.57638
 attcttcaaaattaacagaaaccaattcgggccagctgaagagaaaaaataaag | gtggct    c.-121

 .         .         .         .         .         .                g.57698
 cccggctgcctctgctgcagttcagagcaacttcaggagcttcccagccgagagcttcag       c.-61

 .         .         .         .         .         .       | 04     g.95461
 gacgcctttcctgtcccactggcccagttgccacaacaaacaacagagaagacggtg | acc    c.-1

          .         .         .         .         .         .       g.95521
 ATGGGGGATGTGAAGCTGGTTGCCTCGTCACACATTTCCAAAACCTCCCTCAGTGTGGAT       c.60
 M  G  D  V  K  L  V  A  S  S  H  I  S  K  T  S  L  S  V  D         p.20

          .         .         .         .         .         .       g.95581
 CCCTCAAGAGTTGACTCCATGCCCCTGACAGAGGCCCCTGCTTTCATTTTGCCCCCTCGG       c.120
 P  S  R  V  D  S  M  P  L  T  E  A  P  A  F  I  L  P  P  R         p.40

          .         .         .         .      | 05  .         .    g.136779
 AACCTCTGCATCAAAGAAGGAGCCACCGCCAAGTTCGAAGGGCGG | GTCCGGGGTTACCCA    c.180
 N  L  C  I  K  E  G  A  T  A  K  F  E  G  R   | V  R  G  Y  P      p.60

          .         .         .         .         .         .       g.136839
 GAGCCCCAGGTGACATGGCACAGAAACGGGCAACCCATCACCAGCGGGGGCCGCTTCCTG       c.240
 E  P  Q  V  T  W  H  R  N  G  Q  P  I  T  S  G  G  R  F  L         p.80

          .         .         .         .         .         .       g.136899
 CTGGATTGCGGCATCCGGGGGACTTTCAGCCTTGTGATTCATGCTGTCCATGAGGAGGAC       c.300
 L  D  C  G  I  R  G  T  F  S  L  V  I  H  A  V  H  E  E  D         p.100

          .         .         .         .         .         .       g.136959
 AGGGGAAAGTATACCTGTGAAGCCACCAATGGCAGTGGTGCTCGCCAGGTGACAGTGGAG       c.360
 R  G  K  Y  T  C  E  A  T  N  G  S  G  A  R  Q  V  T  V  E         p.120

          .    | 06    .         .         .         .         .    g.149348
 TTGACAGTAGAAG | GAAGTTTTGCGAAGCAGCTTGGTCAGCCTGTTGTTTCCAAAACCTTA    c.420
 L  T  V  E  G |   S  F  A  K  Q  L  G  Q  P  V  V  S  K  T  L      p.140

    | 07     .         .         .         .         .         .    g.150298
 GG | GGATAGATTTTCAGCTCCAGCAGTGGAGACCCGTCCTAGCATCTGGGGGGAGTGCCCA    c.480
 G  |  D  R  F  S  A  P  A  V  E  T  R  P  S  I  W  G  E  C  P      p.160

          .         .         .         .         .         .       g.150358
 CCAAAGTTTGCTACCAAGCTGGGCCGAGTTGTGGTCAAAGAAGGACAGATGGGACGATTC       c.540
 P  K  F  A  T  K  L  G  R  V  V  V  K  E  G  Q  M  G  R  F         p.180

          .         .         .         .         | 08         .    g.151771
 TCCTGCAAGATCACTGGCCGGCCCCAACCGCAGGTCACCTGGCTCAAG | GGAAATGTTCCA    c.600
 S  C  K  I  T  G  R  P  Q  P  Q  V  T  W  L  K   | G  N  V  P      p.200

          .         .         .         .         .         .       g.151831
 CTGCAGCCGAGTGCCCGTGTGTCTGTGTCTGAGAAGAACGGCATGCAGGTTCTGGAAATC       c.660
 L  Q  P  S  A  R  V  S  V  S  E  K  N  G  M  Q  V  L  E  I         p.220

          .         .         .         .         .         .       g.151891
 CATGGAGTCAACCAAGATGACGTGGGAGTGTACACGTGCCTGGTGGTGAACGGGTCGGGG       c.720
 H  G  V  N  Q  D  D  V  G  V  Y  T  C  L  V  V  N  G  S  G         p.240

          .         .         .     | 09   .         .    | 10    . g.155087
 AAGGCCTCGATGTCAGCTGAACTTTCCATCCAAG | GTTTGGACAGTGCCAATAG | GTCATTT c.780
 K  A  S  M  S  A  E  L  S  I  Q  G |   L  D  S  A  N  R  |  S  F   p.260

          .         .         .         .         .         .       g.155147
 GTGAGAGAAACAAAAGCCACCAATTCAGATGTCAGGAAAGAGGTGACCAATGTAATCTCA       c.840
 V  R  E  T  K  A  T  N  S  D  V  R  K  E  V  T  N  V  I  S         p.280

          .         .         .         .         .         .       g.155207
 AAGGAGTCGAAGCTGGACAGTCTGGAGGCTGCAGCCAAAAGCAAGAACTGCTCCAGCCCC       c.900
 K  E  S  K  L  D  S  L  E  A  A  A  K  S  K  N  C  S  S  P         p.300

          .         .         .         .         .         .       g.155267
 CAGAGAGGTGGCTCCCCACCCTGGGCTGCAAACAGCCAGCCTCAGCCCCCAAGGGAGTCC       c.960
 Q  R  G  G  S  P  P  W  A  A  N  S  Q  P  Q  P  P  R  E  S         p.320

          .         .         .         .         .         .       g.155327
 AAGCTGGAGTCATGCAAGGACTCGCCCAGAACGGCCCCGCAGACCCCGGTCCTTCAGAAG       c.1020
 K  L  E  S  C  K  D  S  P  R  T  A  P  Q  T  P  V  L  Q  K         p.340

          .         .         .         .         .         .       g.155387
 ACTTCCAGCTCCATCACCCTGCAGGCCGCAAGAGTTCAGCCGGAACCAAGAGCACCAGGC       c.1080
 T  S  S  S  I  T  L  Q  A  A  R  V  Q  P  E  P  R  A  P  G         p.360

          .         .         .         .         .         .       g.155447
 CTGGGGGTCCTATCACCTTCTGGAGAAGAGAGGAAGAGGCCAGCTCCTCCCCGTCCAGCC       c.1140
 L  G  V  L  S  P  S  G  E  E  R  K  R  P  A  P  P  R  P  A         p.380

          .         .         .         .         .         .       g.155507
 ACCTTCCCCACCAGGCAGCCTGGCCTGGGGAGCCAAGATGTTGTGAGCAAGGCTGCTAAC       c.1200
 T  F  P  T  R  Q  P  G  L  G  S  Q  D  V  V  S  K  A  A  N         p.400

          .         .         .         .         .         .       g.155567
 AGGAGAATCCCCATGGAGGGCCAGAGGGATTCAGCATTCCCCAAATTTGAGAGCAAGCCC       c.1260
 R  R  I  P  M  E  G  Q  R  D  S  A  F  P  K  F  E  S  K  P         p.420

          .         .         .         .          | 11        .    g.156211
 CAAAGCCAGGAGGTCAAGGAAAATCAAACTGTCAAGTTCAGATGTGAAG | TTTCCGGGATT    c.1320
 Q  S  Q  E  V  K  E  N  Q  T  V  K  F  R  C  E  V |   S  G  I      p.440

          .         .         .         .         .         .       g.156271
 CCAAAGCCTGAAGTGGCCTGGTTCCTGGAAGGCACCCCCGTGAGGAGACAGGAAGGCAGC       c.1380
 P  K  P  E  V  A  W  F  L  E  G  T  P  V  R  R  Q  E  G  S         p.460

          .         .         .         .         .         .       g.156331
 ATTGAGGTTTATGAAGATGCTGGCTCCCATTACCTCTGCCTGCTGAAAGCCCGGACCAGG       c.1440
 I  E  V  Y  E  D  A  G  S  H  Y  L  C  L  L  K  A  R  T  R         p.480

          .         .         .         .         .         .       g.156391
 GACAGTGGGACATACAGCTGCACTGCTTCCAACGCCCAAGGCCAGCTGTCCTGTAGCTGG       c.1500
 D  S  G  T  Y  S  C  T  A  S  N  A  Q  G  Q  L  S  C  S  W         p.500

          .       | 12 .         .         .         .         .    g.163268
 ACCCTCCAAGTGGAAA | GGCTTGCCGTGATGGAGGTGGCCCCCTCCTTCTCCAGTGTCCTG    c.1560
 T  L  Q  V  E  R |   L  A  V  M  E  V  A  P  S  F  S  S  V  L      p.520

          .         .         .         .         .         .       g.163328
 AAGGACTGCGCTGTTATTGAGGGCCAGGATTTTGTGCTGCAGTGCTCCGTACGGGGGACC       c.1620
 K  D  C  A  V  I  E  G  Q  D  F  V  L  Q  C  S  V  R  G  T         p.540

          .         .         .  | 13      .         .         .    g.167051
 CCAGTGCCCCGGATCACTTGGCTGCTGAATG | GGCAGCCCATCCAGTACGCTCGCTCCACC    c.1680
 P  V  P  R  I  T  W  L  L  N  G |   Q  P  I  Q  Y  A  R  S  T      p.560

          .         .         .         .         .         .       g.167111
 TGCGAGGCCGGCGTGGCTGAGCTCCACATCCAGGATGCCCTGCCGGAGGACCATGGCACC       c.1740
 C  E  A  G  V  A  E  L  H  I  Q  D  A  L  P  E  D  H  G  T         p.580

          .         .         .         .         .         .       g.167171
 TACACCTGCCTAGCTGAGAATGCCTTGGGGCAGGTGTCCTGCAGCGCCTGGGTCACCGTC       c.1800
 Y  T  C  L  A  E  N  A  L  G  Q  V  S  C  S  A  W  V  T  V         p.600

      | 14   .         .         .         .         .         .    g.179465
 CATG | AAAAGAAGAGTAGCAGGAAGAGTGAGTACCTTCTGCCTGTGGCTCCCAGCAAGCCC    c.1860
 H  E |   K  K  S  S  R  K  S  E  Y  L  L  P  V  A  P  S  K  P      p.620

          .         .         .         .         .         .       g.179525
 ACTGCACCCATCTTCCTGCAGGGCCTCTCTGATCTCAAAGTCATGGATGGAAGCCAGGTC       c.1920
 T  A  P  I  F  L  Q  G  L  S  D  L  K  V  M  D  G  S  Q  V         p.640

          .         .   | 15     .         .         .         .    g.180445
 ACTATGACTGTCCAAGTGTCAG | GGAATCCACCCCCTGAAGTCATCTGGCTGCACAATGGG    c.1980
 T  M  T  V  Q  V  S  G |   N  P  P  P  E  V  I  W  L  H  N  G      p.660

          .         .         .         .         .         .       g.180505
 AATGAGATCCAAGAGTCAGAGGACTTCCACTTTGAACAGAGAGGAACTCAGCACAGCCTT       c.2040
 N  E  I  Q  E  S  E  D  F  H  F  E  Q  R  G  T  Q  H  S  L         p.680

          .         .         .         .         .         .       g.180565
 TGTATCCAGGAAGTGTTCCCGGAGGACACGGGCACGTACACCTGCGAGGCCTGGAACAGC       c.2100
 C  I  Q  E  V  F  P  E  D  T  G  T  Y  T  C  E  A  W  N  S         p.700

          .         .         .         . | 16       .         .    g.181319
 GCTGGAGAGGTCCGCACCCAGGCCGTGCTCACGGTACAAG | AGCCTCACGATGGCACCCAG    c.2160
 A  G  E  V  R  T  Q  A  V  L  T  V  Q  E |   P  H  D  G  T  Q      p.720

          .         .         .         .         .         .       g.181379
 CCCTGGTTCATCAGTAAGCCTCGCTCAGTGACAGCCTCCCTGGGCCAGAGTGTCCTCATC       c.2220
 P  W  F  I  S  K  P  R  S  V  T  A  S  L  G  Q  S  V  L  I         p.740

          .         .         .         .         .         .       g.181439
 TCCTGCGCCATAGCTGGTGACCCCTTTCCTACCGTGCACTGGCTCAGAGATGGCAAAGCC       c.2280
 S  C  A  I  A  G  D  P  F  P  T  V  H  W  L  R  D  G  K  A         p.760

          .         .         .         .         .         .       g.181499
 CTCTGCAAAGACACTGGCCACTTCGAGGTGCTTCAGAATGAGGACGTGTTCACCCTGGTT       c.2340
 L  C  K  D  T  G  H  F  E  V  L  Q  N  E  D  V  F  T  L  V         p.780

          .         .         .         .         . | 17       .    g.187803
 CTAAAGAAGGTGCAGCCCTGGCATGCCGGCCAGTATGAGATCCTGCTCAA | GAACCGGGTT    c.2400
 L  K  K  V  Q  P  W  H  A  G  Q  Y  E  I  L  L  K  |  N  R  V      p.800

          .         .         .         .         .         .       g.187863
 GGCGAATGCAGTTGCCAGGTGTCACTGATGCTACAGAACAGCTCTGCCAGAGCCCTTCCA       c.2460
 G  E  C  S  C  Q  V  S  L  M  L  Q  N  S  S  A  R  A  L  P         p.820

    | 18     .         .         .         .         .         .    g.188355
 CG | GGGGAGGGAGCCTGCCAGCTGCGAGGACCTCTGTGGTGGAGGAGTTGGTGCTGATGGT    c.2520
 R  |  G  R  E  P  A  S  C  E  D  L  C  G  G  G  V  G  A  D  G      p.840

          .         .         .         .         .         .       g.188415
 GGTGGTAGTGACCGCTATGGGTCCCTGAGGCCTGGCTGGCCAGCAAGAGGGCAGGGTTGG       c.2580
 G  G  S  D  R  Y  G  S  L  R  P  G  W  P  A  R  G  Q  G  W         p.860

          .         .         .         .         .         .       g.188475
 CTAGAGGAGGAAGACGGCGAGGACGTGCGAGGGGTGCTGAAGAGGCGCGTGGAGACGAGG       c.2640
 L  E  E  E  D  G  E  D  V  R  G  V  L  K  R  R  V  E  T  R         p.880

          .         .         .         .         .         .       g.188535
 CAGCACACTGAGGAGGCGATCCGCCAGCAGGAGGTGGAGCAGCTGGACTTCCGAGACCTC       c.2700
 Q  H  T  E  E  A  I  R  Q  Q  E  V  E  Q  L  D  F  R  D  L         p.900

          .         .         .         .         .         .       g.188595
 CTGGGGAAGAAGGTGAGTACAAAGACCCTATCGGAAGACGACCTGAAGGAGATCCCAGCC       c.2760
 L  G  K  K  V  S  T  K  T  L  S  E  D  D  L  K  E  I  P  A         p.920

          .         .         .         .         .         .       g.188655
 GAGCAGATGGATTTCCGTGCCAACCTGCAGCGGCAAGTGAAGCCAAAGACTGTGTCTGAG       c.2820
 E  Q  M  D  F  R  A  N  L  Q  R  Q  V  K  P  K  T  V  S  E         p.940

          .         .         .         .         .         .       g.188715
 GAAGAGAGGAAGGTGCACAGCCCCCAGCAGGTCGATTTTCGCTCTGTCCTGGCCAAGAAG       c.2880
 E  E  R  K  V  H  S  P  Q  Q  V  D  F  R  S  V  L  A  K  K         p.960

          .         .         .         .         .         .       g.188775
 GGGACTTCCAAGACCCCCGTGCCTGAGAAGGTGCCACCGCCAAAACCTGCCACCCCGGAT       c.2940
 G  T  S  K  T  P  V  P  E  K  V  P  P  P  K  P  A  T  P  D         p.980

          .         .         .         .         .         .       g.188835
 TTTCGCTCAGTGCTGGGTGGCAAGAAGAAATTACCAGCAGAGAATGGCAGCAGCAGTGCC       c.3000
 F  R  S  V  L  G  G  K  K  K  L  P  A  E  N  G  S  S  S  A         p.1000

          .         .         .         .         .         .       g.188895
 GAGACCCTGAATGCCAAGGCAGTGGAGAGTTCCAAGCCCCTGAGCAATGCACAGCCTTCA       c.3060
 E  T  L  N  A  K  A  V  E  S  S  K  P  L  S  N  A  Q  P  S         p.1020

          .         .         .         .         .         .       g.188955
 GGGCCCTTGAAACCCGTGGGCAACGCCAAGCCTGCTGAGACCCTGAAGCCAATGGGCAAC       c.3120
 G  P  L  K  P  V  G  N  A  K  P  A  E  T  L  K  P  M  G  N         p.1040

          .         .         .         .         .         .       g.189015
 GCCAAGCCTGCCGAGACCCTGAAGCCCATGGGCAATGCCAAGCCTGATGAGAACCTGAAA       c.3180
 A  K  P  A  E  T  L  K  P  M  G  N  A  K  P  D  E  N  L  K         p.1060

          .         .         .         .         .         .       g.189075
 TCCGCTAGCAAAGAAGAACTCAAGAAAGACGTTAAGAATGATGTGAACTGCAAGAGAGGC       c.3240
 S  A  S  K  E  E  L  K  K  D  V  K  N  D  V  N  C  K  R  G         p.1080

          .         .         .         .         .         .       g.189135
 CATGCAGGGACCACAGATAATGAAAAGAGATCAGAGAGCCAGGGGACAGCCCCAGCCTTC       c.3300
 H  A  G  T  T  D  N  E  K  R  S  E  S  Q  G  T  A  P  A  F         p.1100

          .         .         .         .         .         .       g.189195
 AAGCAGAAGCTGCAAGATGTTCATGTGGCAGAGGGCAAGAAGCTGCTGCTCCAGTGCCAG       c.3360
 K  Q  K  L  Q  D  V  H  V  A  E  G  K  K  L  L  L  Q  C  Q         p.1120

          .         .         .         .         .         .       g.189255
 GTGTCTTCTGACCCCCCAGCCACCATCATCTGGACGCTGAACGGAAAGACCCTCAAGACC       c.3420
 V  S  S  D  P  P  A  T  I  I  W  T  L  N  G  K  T  L  K  T         p.1140

          .         .         | 19         .         .         .    g.196483
 ACCAAGTTCATCATCCTCTCCCAGGAAG | GCTCACTCTGCTCCGTCTCCATCGAGAAGGCA    c.3480
 T  K  F  I  I  L  S  Q  E  G |   S  L  C  S  V  S  I  E  K  A      p.1160

          .         .         .         .         .         .       g.196543
 CTGCCTGAGGACAGAGGCTTATACAAGTGTGTAGCCAAGAATGACGCTGGCCAGGCGGAG       c.3540
 L  P  E  D  R  G  L  Y  K  C  V  A  K  N  D  A  G  Q  A  E         p.1180

          .         .      | 20  .         .         .         .    g.207027
 TGCTCCTGCCAAGTCACCGTGGATG | ATGCTCCAGCCAGTGAGAACACCAAGGCCCCAGAG    c.3600
 C  S  C  Q  V  T  V  D  D |   A  P  A  S  E  N  T  K  A  P  E      p.1200

          .         .         .         .         .   | 21     .    g.222123
 ATGAAATCCCGGAGGCCCAAGAGCTCTCTTCCTCCCGTGCTAGGAACTGAGA | GTGATGCG    c.3660
 M  K  S  R  R  P  K  S  S  L  P  P  V  L  G  T  E  S |   D  A      p.1220

          .         .         .         .    | 22    .         .    g.222973
 ACTGTGAAAAAGAAACCTGCCCCCAAGACACCTCCGAAGGCAG | CAATGCCCCCTCAGATC    c.3720
 T  V  K  K  K  P  A  P  K  T  P  P  K  A  A |   M  P  P  Q  I      p.1240

          .         .         .         .         .         .       g.223033
 ATCCAGTTCCCTGAGGACCAGAAGGTACGCGCAGGAGAGTCAGTGGAGCTGTTTGGCAAA       c.3780
 I  Q  F  P  E  D  Q  K  V  R  A  G  E  S  V  E  L  F  G  K         p.1260

          .         .         .         .         .  | 23      .    g.225053
 GTGACAGGCACTCAGCCCATCACCTGTACCTGGATGAAGTTCCGAAAGCAG | ATCCAGGAA    c.3840
 V  T  G  T  Q  P  I  T  C  T  W  M  K  F  R  K  Q   | I  Q  E      p.1280

          .         .         .         .         .         .       g.225113
 AGCGAGCACATGAAGGTGGAGAACAGCGAGAATGGCAGCAAGCTCACCATCCTGGCCGCG       c.3900
 S  E  H  M  K  V  E  N  S  E  N  G  S  K  L  T  I  L  A  A         p.1300

          .         .         .         .         .         .       g.225173
 CGCCAGGAGCACTGCGGCTGCTACACACTGCTGGTGGAGAACAAGCTGGGCAGCAGGCAG       c.3960
 R  Q  E  H  C  G  C  Y  T  L  L  V  E  N  K  L  G  S  R  Q         p.1320

          .         .      | 24  .         .         .         .    g.231909
 GCCCAGGTCAACCTCACTGTCGTGG | ATAAGCCAGACCCCCCAGCTGGCACACCTTGTGCC    c.4020
 A  Q  V  N  L  T  V  V  D |   K  P  D  P  P  A  G  T  P  C  A      p.1340

          .         .         .         .         .         .       g.231969
 TCTGACATTCGGAGCTCCTCACTGACCCTGTCCTGGTATGGCTCCTCATATGATGGGGGC       c.4080
 S  D  I  R  S  S  S  L  T  L  S  W  Y  G  S  S  Y  D  G  G         p.1360

          .         .         .         .         .         .       g.232029
 AGTGCTGTACAGTCCTACAGCATCGAGATCTGGGACTCAGCCAACAAGACGTGGAAGGAA       c.4140
 S  A  V  Q  S  Y  S  I  E  I  W  D  S  A  N  K  T  W  K  E         p.1380

          .         .         .         .         .         .       g.232089
 CTAGCCACATGCCGCAGCACCTCTTTCAACGTCCAGGACCTGCTGCCTGACCACGAATAT       c.4200
 L  A  T  C  R  S  T  S  F  N  V  Q  D  L  L  P  D  H  E  Y         p.1400

          .         .         .         .         .         .       g.232149
 AAGTTCCGTGTACGTGCAATCAACGTGTATGGAACCAGTGAGCCAAGCCAGGAGTCTGAA       c.4260
 K  F  R  V  R  A  I  N  V  Y  G  T  S  E  P  S  Q  E  S  E         p.1420

          .         .         | 25         .         .         .    g.240140
 CTCACAACGGTAGGAGAGAAACCTGAAG | AGCCGAAGGATGAAGTGGAGGTGTCAGATGAT    c.4320
 L  T  T  V  G  E  K  P  E  E |   P  K  D  E  V  E  V  S  D  D      p.1440

   | 26      .         .         .         .         .         .    g.240297
 G | ATGAGAAGGAGCCCGAGGTTGATTACCGGACAGTGACAATCAATACTGAACAAAAAGTA    c.4380
 D |   E  K  E  P  E  V  D  Y  R  T  V  T  I  N  T  E  Q  K  V      p.1460

          .         .         .      | 27  .         .         .    g.241900
 TCTGACTTCTACGACATTGAGGAGAGATTAGGATC | TGGGAAATTTGGACAGGTCTTTCGA    c.4440
 S  D  F  Y  D  I  E  E  R  L  G  S  |  G  K  F  G  Q  V  F  R      p.1480

          .         .         .         .         .         .       g.241960
 CTTGTAGAAAAGAAAACTCGAAAAGTCTGGGCAGGGAAGTTCTTCAAGGCATATTCAGCA       c.4500
 L  V  E  K  K  T  R  K  V  W  A  G  K  F  F  K  A  Y  S  A         p.1500

          .         .         .         .         .         .       g.242020
 AAAGAGAAAGAGAATATCCGGCAGGAGATTAGCATCATGAACTGCCTCCACCACCCTAAG       c.4560
 K  E  K  E  N  I  R  Q  E  I  S  I  M  N  C  L  H  H  P  K         p.1520

          .         .         .         .         .          | 28    g.248799
 CTGGTCCAGTGTGTGGATGCCTTTGAAGAAAAGGCCAACATCGTCATGGTCCTGGAGAT | C    c.4620
 L  V  Q  C  V  D  A  F  E  E  K  A  N  I  V  M  V  L  E  I  |      p.1540

          .         .         .         .         .         .       g.248859
 GTGTCAGGAGGGGAGCTGTTTGAGCGCATCATTGACGAGGACTTTGAGCTGACGGAGCGT       c.4680
 V  S  G  G  E  L  F  E  R  I  I  D  E  D  F  E  L  T  E  R         p.1560

          .         .         .         .         .         .       g.248919
 GAGTGCATCAAGTACATGCGGCAGATCTCGGAGGGAGTGGAGTACATCCACAAGCAGGGC       c.4740
 E  C  I  K  Y  M  R  Q  I  S  E  G  V  E  Y  I  H  K  Q  G         p.1580

          .         .         .         .         .         .       g.248979
 ATCGTGCACCTGGACCTCAAGCCGGAGAACATCATGTGTGTCAACAAGACGGGCACCAGG       c.4800
 I  V  H  L  D  L  K  P  E  N  I  M  C  V  N  K  T  G  T  R         p.1600

          .         .         .        | 29.         .         .    g.251131
 ATCAAGCTCATCGACTTTGGTCTGGCCAGGAGGCTGG | AGAATGCGGGGTCTCTGAAGGTC    c.4860
 I  K  L  I  D  F  G  L  A  R  R  L  E |   N  A  G  S  L  K  V      p.1620

          .         .         .         .         .         .       g.251191
 CTCTTTGGCACCCCAGAATTTGTGGCTCCTGAAGTGATCAACTATGAGCCCATCGGCTAC       c.4920
 L  F  G  T  P  E  F  V  A  P  E  V  I  N  Y  E  P  I  G  Y         p.1640

          .         .         .         .  | 30      .         .    g.259695
 GCCACAGACATGTGGAGCATCGGGGTCATCTGCTACATCCT | AGTCAGTGGCCTTTCCCCC    c.4980
 A  T  D  M  W  S  I  G  V  I  C  Y  I  L  |  V  S  G  L  S  P      p.1660

          .         .         .         .         .         .       g.259755
 TTCATGGGAGACAACGATAACGAAACCTTGGCCAACGTTACCTCAGCCACCTGGGACTTC       c.5040
 F  M  G  D  N  D  N  E  T  L  A  N  V  T  S  A  T  W  D  F         p.1680

          .         .         .         .         .         .       g.259815
 GACGACGAGGCATTCGATGAGATCTCCGACGATGCCAAGGATTTCATCAGCAATCTGCTG       c.5100
 D  D  E  A  F  D  E  I  S  D  D  A  K  D  F  I  S  N  L  L         p.1700

          .     | 31   .         .         .         .         .    g.262407
 AAGAAAGATATGAA | AAACCGCCTGGACTGCACGCAGTGCCTTCAGCATCCATGGCTAATG    c.5160
 K  K  D  M  K  |  N  R  L  D  C  T  Q  C  L  Q  H  P  W  L  M      p.1720

          .         .         .         .         .         .       g.262467
 AAAGATACCAAGAACATGGAGGCCAAGAAACTCTCCAAGGACCGGATGAAGAAGTACATG       c.5220
 K  D  T  K  N  M  E  A  K  K  L  S  K  D  R  M  K  K  Y  M         p.1740

          .         | 32         .         .         .         .    g.269008
 GCAAGAAGGAAATGGCAG | AAAACGGGCAATGCTGTGAGAGCCATTGGAAGACTGTCCTCT    c.5280
 A  R  R  K  W  Q   | K  T  G  N  A  V  R  A  I  G  R  L  S  S      p.1760

          .         .         .         .         .         .       g.269068
 ATGGCAATGATCTCAGGGCTCAGTGGCAGGAAATCCTCAACAGGGTCACCAACCAGCCCG       c.5340
 M  A  M  I  S  G  L  S  G  R  K  S  S  T  G  S  P  T  S  P         p.1780

          .         .         | 33         .         .         .    g.270564
 CTCAATGCAGAAAAACTAGAATCTGAAG | AAGATGTGTCCCAAGCTTTCCTTGAGGCTGTT    c.5400
 L  N  A  E  K  L  E  S  E  E |   D  V  S  Q  A  F  L  E  A  V      p.1800

          .         .         .         .         .         .       g.270624
 GCTGAGGAAAAGCCTCATGTAAAACCCTATTTCTCTAAGACCATTCGCGATTTAGAAGTT       c.5460
 A  E  E  K  P  H  V  K  P  Y  F  S  K  T  I  R  D  L  E  V         p.1820

          .         .         .         . | 34       .         .    g.274973
 GTGGAGGGAAGTGCTGCTAGATTTGACTGCAAGATTGAAG | GATACCCAGACCCCGAGGTT    c.5520
 V  E  G  S  A  A  R  F  D  C  K  I  E  G |   Y  P  D  P  E  V      p.1840

          .         .         .         .         .         .       g.275033
 GTCTGGTTCAAAGATGACCAGTCAATCAGGGAGTCCCGCCACTTCCAGATAGACTACGAT       c.5580
 V  W  F  K  D  D  Q  S  I  R  E  S  R  H  F  Q  I  D  Y  D         p.1860

          .         .         .         .         .         .       g.275093
 GAGGACGGGAACTGCTCTTTAATTATTAGTGATGTTTGCGGGGATGACGATGCCAAGTAC       c.5640
 E  D  G  N  C  S  L  I  I  S  D  V  C  G  D  D  D  A  K  Y         p.1880

          .         .         .         .         .         .       g.275153
 ACCTGCAAGGCTGTCAACAGTCTTGGAGAAGCCACCTGCACAGCAGAGCTCATTGTGGAA       c.5700
 T  C  K  A  V  N  S  L  G  E  A  T  C  T  A  E  L  I  V  E         p.1900

          .         .         .         .                           g.275198
 ACGATGGAGGAAGGTGAAGGGGAAGGGGAAGAGGAAGAAGAGTGA                      c.5745
 T  M  E  E  G  E  G  E  G  E  E  E  E  E  X                        p.1914

          .         .         .         .         .         .       g.275258
 aacaaagccagagaaaagcagtttctaagtcatattaaaaggactatttctctaaaactc       c.*60

          .         .         .         .         .         .       g.275318
 aaaaaaaaaaaaaaaactcaagatagtaaaagcacctagtgtgatagattatcggttagg       c.*120

          .         .         .         .         .         .       g.275378
 tcatttgtgggttgattcttcagaaacagcagttgatacctagcagcgttattgatgggc       c.*180

          .         .         .         .         .         .       g.275438
 attaatctatgttagttggcaccttaagatactagtgcagctagatttcatttagggaaa       c.*240

          .         .         .         .         .         .       g.275498
 tcaccagtaacttgactgaccaattgattttagagagaaagtaaccaaaccaaatattta       c.*300

          .         .         .         .         .         .       g.275558
 tctgggcaaagtcataaattctccacttgaatgcgctcatgaaaaataaggccaaaacaa       c.*360

          .         .         .         .         .         .       g.275618
 gagttctgggccacagctcagcccagagggttcctggggatgggaggcctctctctcccc       c.*420

          .         .         .         .         .         .       g.275678
 accccctgactctagagaactgggttttctcccagtactccagcaattcatttctgaaag       c.*480

          .         .         .         .         .         .       g.275738
 cagttgagccactttattccaaagtacactgcagatgttcaaactctccatttctctttc       c.*540

          .         .         .         .         .         .       g.275798
 cccttccacctgccagttttgctgactctcaacttgtcatgagtgtaagcattaaggaca       c.*600

          .         .         .         .         .         .       g.275858
 ttatgcttcttcgattctgaagacaggtccctgctcatggatgactctggcttccttagg       c.*660

          .         .         .         .         .         .       g.275918
 aaaatatttttcttccaaaatcagtaggaaatctaaacttatcccctctttgcagatgtc       c.*720

          .         .         .         .         .         .       g.275978
 tagcagcttcagacatttggttaagaacccatgggaaaaaaaaaatccttgctaatgtgg       c.*780

          .         .         .         .         .         .       g.276038
 tttcctttgtaaaccaggattcttatttgtgctgttatagaatatcagctctgaacgtgt       c.*840

          .         .         .         .         .         .       g.276098
 ggtaaagatttttgtgtttgaatataggagaaatcagtttgctgaaaagttagtcttaat       c.*900

          .         .         .         .         .         .       g.276158
 tatctattggccacgatgaaacagatttcaactgataaagagctggagaactccatgtac       c.*960

          .         .         .         .         .         .       g.276218
 tttggaatctcctccaagatagccagagtttaatacatcttcattctcaacactctccaa       c.*1020

          .         .         .         .         .         .       g.276278
 agaacttgacctaccttatgggttccatatttttcttcttaaatgtgcatcaatcatgcc       c.*1080

          .         .         .         .         .         .       g.276338
 ttgcccccaacctttaaatatattcttagacctggtaaatgcactcagacttgcgtcttt       c.*1140

          .         .         .         .         .         .       g.276398
 aggaatttttaactttctttcactacattggcacttaaattttttctttataaagctttt       c.*1200

          .         .         .         .         .         .       g.276458
 tgaaggtcataaacaaagaccataattgatgatagacctaatacatttcctctgtgtgtg       c.*1260

          .         .         .         .         .         .       g.276518
 tgtgtaacattccaaatactttttttttcttttccactgtttgtaaggtgcaacaattta       c.*1320

          .         .         .         .         .         .       g.276578
 atatttttaagggactttttaagagttccttaagaaccaatttaaaattacttcagtgca       c.*1380

          .         .         .         .         .         .       g.276638
 atcctacacagtatcaacattagaattttgatattagtcttatgttatcttccattctat       c.*1440

          .         .         .         .         .         .       g.276698
 ttttatctgctttttgctgctagtttcaaactgccagtatttttccttttgcttttaaaa       c.*1500

          .         .         .         .         .         .       g.276758
 tagttacaatatttttcatgatagccacagtattgccacagtttattataataaagggtt       c.*1560

          .         .         .         .         .         .       g.276818
 tttatttgatttagcgcattcaaagcttttttctatcacttttgtgttcagaatataacc       c.*1620

          .         .         .         .         .         .       g.276878
 tttgtgtgcgtgtatgttgtgtgtgtgcatgtgtggcgtatatgtgtgttacaggttaat       c.*1680

          .         .         .         .         .         .       g.276938
 gccttcttggaattgtgttaatgttctcttggtttattatgccatcagaatggtaaatga       c.*1740

          .         .         .         .         .         .       g.276998
 gaacactacaactgtagtcagctcacaatttttaaataaaggataccacagtgcatgctg       c.*1800

                                                                    g.277007
 tttgttcaa                                                          c.*1809

 (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 light chain kinase 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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