laminin, alpha 1 (LAMA1) - coding DNA reference sequence

(used for variant description)

(last modified December 24, 2014)


This file was created to facilitate the description of sequence variants on transcript NM_005559.3 in the LAMA1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000018.9, covering LAMA1 transcript NM_005559.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5034
                           cggggccagggcagcgcggactcgcgtcccgtgg       c.-61

 .         .         .         .         .         .                g.5094
 agcgttccaggcgggcgcgcggctttctccccagacccaccgagtggcggcggaggcgag       c.-1

          .         .         .         .         .         .       g.5154
 ATGCGCGGGGGCGTGCTCCTGGTCTTGCTGCTGTGTGTCGCCGCGCAGTGCCGGCAGAGA       c.60
 M  R  G  G  V  L  L  V  L  L  L  C  V  A  A  Q  C  R  Q  R         p.20

   | 02      .         .         .         .         .         .    g.42416
 G | GCCTGTTTCCTGCCATTCTCAATCTTGCCAGCAATGCTCACATCAGCACCAATGCCACC    c.120
 G |   L  F  P  A  I  L  N  L  A  S  N  A  H  I  S  T  N  A  T      p.40

          .         .         .         .         .         .       g.42476
 TGTGGCGAGAAGGGGCCGGAGATGTTCTGCAAACTTGTGGAGCATGTGCCAGGTCGGCCC       c.180
 C  G  E  K  G  P  E  M  F  C  K  L  V  E  H  V  P  G  R  P         p.60

          .         .         .         .         .   | 03     .    g.42735
 GTCCGAAACCCACAGTGCCGGATCTGTGATGGCAACAGCGCAAACCCCAGAG | AACGCCAT    c.240
 V  R  N  P  Q  C  R  I  C  D  G  N  S  A  N  P  R  E |   R  H      p.80

          .         .         .         .         .         .       g.42795
 CCAATATCACATGCCATAGATGGCACCAATAACTGGTGGCAAAGTCCCAGCATTCAGAAT       c.300
 P  I  S  H  A  I  D  G  T  N  N  W  W  Q  S  P  S  I  Q  N         p.100

          .         .         .         .      | 04  .         .    g.71893
 GGGAGAGAATATCACTGGGTCACAATCACTCTGGACTTAAGACAG | GTCTTTCAAGTTGCA    c.360
 G  R  E  Y  H  W  V  T  I  T  L  D  L  R  Q   | V  F  Q  V  A      p.120

          .         .         .         .         .         .       g.71953
 TATGTCATCATTAAAGCTGCCAATGCCCCTCGACCTGGAAACTGGATTTTGGAGCGTTCT       c.420
 Y  V  I  I  K  A  A  N  A  P  R  P  G  N  W  I  L  E  R  S         p.140

          .         .         .         .         .         .       g.72013
 CTGGATGGCACCACGTTCAGCCCCTGGCAGTATTATGCAGTCAGCGACTCAGAGTGTTTG       c.480
 L  D  G  T  T  F  S  P  W  Q  Y  Y  A  V  S  D  S  E  C  L         p.160

          .         .         .         .         .         .       g.72073
 TCTCGTTACAATATAACTCCAAGACGAGGGCCACCCACCTACAGGGCTGATGATGAAGTG       c.540
 S  R  Y  N  I  T  P  R  R  G  P  P  T  Y  R  A  D  D  E  V         p.180

          .         .         .         .         | 05         .    g.73569
 ATCTGCACCTCCTATTATTCCAGATTGGTGCCACTTGAGCATGGAGAG | ATTCATACATCA    c.600
 I  C  T  S  Y  Y  S  R  L  V  P  L  E  H  G  E   | I  H  T  S      p.200

          .         .         .         .         .         .       g.73629
 CTCATCAATGGCAGACCAAGCGCTGACGATCTTTCACCCAAGTTGTTGGAATTCACTTCT       c.660
 L  I  N  G  R  P  S  A  D  D  L  S  P  K  L  L  E  F  T  S         p.220

          .         .         .         .         .         .       g.73689
 GCACGATATATTCGCCTTCGCTTGCAACGCATTAGAACGCTCAATGCAGATCTCATGACC       c.720
 A  R  Y  I  R  L  R  L  Q  R  I  R  T  L  N  A  D  L  M  T         p.240

          .         .         .         .         | 06         .    g.76459
 CTTAGCCACCGGGAACCTAAAGAACTGGATCCTATTGTTACCAGACGC | TATTATTATTCA    c.780
 L  S  H  R  E  P  K  E  L  D  P  I  V  T  R  R   | Y  Y  Y  S      p.260

          .         .         .         .         .         .       g.76519
 ATAAAGGACATTTCTGTTGGAGGCATGTGTATCTGCTATGGCCATGCTAGTAGCTGCCCA       c.840
 I  K  D  I  S  V  G  G  M  C  I  C  Y  G  H  A  S  S  C  P         p.280

          .         | 07         .         .         .         .    g.78017
 TGGGATGAAACTACAAAG | AAACTGCAGTGTCAATGTGAGCATAATACTTGCGGGGAGAGC    c.900
 W  D  E  T  T  K   | K  L  Q  C  Q  C  E  H  N  T  C  G  E  S      p.300

          .         .         .         .         .         .       g.78077
 TGTAACAGGTGCTGTCCTGGGTACCATCAGCAGCCCTGGAGGCCGGGAACCGTGTCCTCC       c.960
 C  N  R  C  C  P  G  Y  H  Q  Q  P  W  R  P  G  T  V  S  S         p.320

          .       | 08 .         .         .         .         .    g.79453
 GGCAATACATGTGAAG | CATGTAATTGTCACAATAAAGCCAAAGACTGTTACTATGATGAA    c.1020
 G  N  T  C  E  A |   C  N  C  H  N  K  A  K  D  C  Y  Y  D  E      p.340

          .         .         .         .         .         .       g.79513
 AGTGTTGCAAAGCAGAAGAAAAGTTTGAATACTGCTGGACAGTTCAGAGGAGGAGGGGTT       c.1080
 S  V  A  K  Q  K  K  S  L  N  T  A  G  Q  F  R  G  G  G  V         p.360

          .         .         .         .         .         .       g.79573
 TGCATAAATTGCTTGCAGAACACCATGGGAATCAACTGTGAAACCTGTATTGATGGATAT       c.1140
 C  I  N  C  L  Q  N  T  M  G  I  N  C  E  T  C  I  D  G  Y         p.380

          .      | 09  .         .         .         .         .    g.80609
 TATAGACCACACAAA | GTGTCTCCTTATGAGGATGAGCCTTGCCGCCCCTGTAATTGTGAC    c.1200
 Y  R  P  H  K   | V  S  P  Y  E  D  E  P  C  R  P  C  N  C  D      p.400

          .         .         .         .         .         .       g.80669
 CCTGTGGGGTCCCTCAGTTCTGTCTGTATTAAGGATGACCTCCATTCTGACTTACACAAT       c.1260
 P  V  G  S  L  S  S  V  C  I  K  D  D  L  H  S  D  L  H  N         p.420

   | 10      .         .         .         .         .         .    g.82637
 G | GGAAGCAGCCAGGTCAGTGCCCATGTAAGGAAGGTTATACAGGAGAAAAATGTGATCGC    c.1320
 G |   K  Q  P  G  Q  C  P  C  K  E  G  Y  T  G  E  K  C  D  R      p.440

          .         .         .         .         .         .       g.82697
 TGCCAACTTGGCTATAAGGATTACCCGACCTGTGTCTCCTGTGGGTGCAACCCAGTGGGC       c.1380
 C  Q  L  G  Y  K  D  Y  P  T  C  V  S  C  G  C  N  P  V  G         p.460

          .         .         .         .   | 11     .         .    g.83882
 AGTGCCAGTGATGAGCCCTGCACAGGGCCCTGTGTTTGTAAG | GAAAACGTTGAGGGGAAG    c.1440
 S  A  S  D  E  P  C  T  G  P  C  V  C  K   | E  N  V  E  G  K      p.480

          .         .         .         .         .         .       g.83942
 GCCTGTGATCGCTGCAAGCCAGGATTCTATAACTTGAAGGAAAAAAACCCCCGGGGCTGC       c.1500
 A  C  D  R  C  K  P  G  F  Y  N  L  K  E  K  N  P  R  G  C         p.500

          .         .         .         .         .         .       g.84002
 TCCGAGTGCTTCTGCTTTGGCGTTTCTGATGTCTGCAGCAGCCTCTCTTGGCCTGTTGGT       c.1560
 S  E  C  F  C  F  G  V  S  D  V  C  S  S  L  S  W  P  V  G         p.520

     | 12    .         .         .         .         .         .    g.85120
 CAG | GTAAACAGTATGTCCGGGTGGCTGGTCACCGACTTGATCAGTCCCAGGAAGATCCCG    c.1620
 Q   | V  N  S  M  S  G  W  L  V  T  D  L  I  S  P  R  K  I  P      p.540

          .         .         .         .         .         .       g.85180
 TCTCAGCAAGATGCACTAGGCGGGCGCCATCAGGTCAGCATCAACAACACCGCGGTCATG       c.1680
 S  Q  Q  D  A  L  G  G  R  H  Q  V  S  I  N  N  T  A  V  M         p.560

          .         .         .         .         .        | 13.    g.86729
 CAGAGACTGGCTCCCAAGTACTACTGGGCAGCCCCCGAGGCCTACCTTGGAAATAAG | CTG    c.1740
 Q  R  L  A  P  K  Y  Y  W  A  A  P  E  A  Y  L  G  N  K   | L      p.580

          .         .         .         .         .         .       g.86789
 ACTGCGTTTGGCGGATTCCTGAAATACACGGTGTCCTACGATATTCCGGTAGAGACGGTA       c.1800
 T  A  F  G  G  F  L  K  Y  T  V  S  Y  D  I  P  V  E  T  V         p.600

          .         .         .          | 14        .         .    g.88145
 GACAGTAACCTCATGTCGCATGCTGACGTCATCATTAAG | GGAAACGGACTCACTTTAAGC    c.1860
 D  S  N  L  M  S  H  A  D  V  I  I  K   | G  N  G  L  T  L  S      p.620

          .         .         .         .         .         .       g.88205
 ACACAGGCTGAGGGTCTGTCATTGCAGCCTTATGAAGAGTACCTAAACGTGGTTAGACTT       c.1920
 T  Q  A  E  G  L  S  L  Q  P  Y  E  E  Y  L  N  V  V  R  L         p.640

          .         .         .         .         .         .       g.88265
 GTGCCTGAAAACTTCCAAGATTTTCACAGCAAAAGGCAGATTGATCGTGACCAGCTGATG       c.1980
 V  P  E  N  F  Q  D  F  H  S  K  R  Q  I  D  R  D  Q  L  M         p.660

          .         .         .         .         .         .       g.88325
 ACTGTCCTTGCCAATGTGACACATCTTTTGATCAGAGCCAACTACAATTCTGCAAAAATG       c.2040
 T  V  L  A  N  V  T  H  L  L  I  R  A  N  Y  N  S  A  K  M         p.680

          .  | 15      .         .         .         .         .    g.89768
 GCTCTTTACAG | GTTGGAGTCCGTCTCTCTGGACATAGCCAGCTCTAATGCCATCGACCTG    c.2100
 A  L  Y  R  |  L  E  S  V  S  L  D  I  A  S  S  N  A  I  D  L      p.700

          .         .         .         .         .         .       g.89828
 GTGGTGGCCGCTGATGTGGAGCACTGTGAATGTCCGCAAGGCTACACAGGGACCTCCTGT       c.2160
 V  V  A  A  D  V  E  H  C  E  C  P  Q  G  Y  T  G  T  S  C         p.720

     | 16    .         .         .         .         .         .    g.90695
 GAG | TCGTGCCTCTCTGGCTATTACCGCGTGGATGGAATACTCTTTGGAGGAATTTGTCAA    c.2220
 E   | S  C  L  S  G  Y  Y  R  V  D  G  I  L  F  G  G  I  C  Q      p.740

          .         .         .         .         .     | 17   .    g.96714
 CCCTGTGAATGCCACGGCCATGCAGCTGAGTGTAATGTTCACGGCGTTTGCATT | GCGTGT    c.2280
 P  C  E  C  H  G  H  A  A  E  C  N  V  H  G  V  C  I   | A  C      p.760

          .         .         .         .         .         .       g.96774
 GCGCACAACACCACCGGCGTCCACTGTGAGCAGTGCTTGCCCGGCTTCTACGGGGAGCCT       c.2340
 A  H  N  T  T  G  V  H  C  E  Q  C  L  P  G  F  Y  G  E  P         p.780

          .         .         .         .         .         .       g.96834
 TCCCGAGGGACACCTGGGGACTGCCAGCCCTGCGCCTGCCCTCTCACCATAGCCTCCAAC       c.2400
 S  R  G  T  P  G  D  C  Q  P  C  A  C  P  L  T  I  A  S  N         p.800

    | 18     .         .         .         .         .         .    g.98406
 AA | TTTCAGCCCCACCTGCCACCTCAATGATGGAGATGAAGTGGTCTGTGACTGGTGTGCC    c.2460
 N  |  F  S  P  T  C  H  L  N  D  G  D  E  V  V  C  D  W  C  A      p.820

          .         .          | 19        .         .         .    g.99470
 CCGGGCTACTCAGGAGCTTGGTGTGAGAG | ATGTGCAGATGGTTACTATGGAAACCCAACA    c.2520
 P  G  Y  S  G  A  W  C  E  R  |  C  A  D  G  Y  Y  G  N  P  T      p.840

          .         .         .         .         .         .       g.99530
 GTGCCTGGCGAATCTTGTGTTCCCTGTGACTGCAGCGGCAACGTGGACCCCTCGGAGGCT       c.2580
 V  P  G  E  S  C  V  P  C  D  C  S  G  N  V  D  P  S  E  A         p.860

          .         .         .         .         .         .       g.99590
 GGTCACTGTGACTCAGTCACCGGGGAGTGCCTGAAGTGCCTGGGGAACACAGATGGCGCC       c.2640
 G  H  C  D  S  V  T  G  E  C  L  K  C  L  G  N  T  D  G  A         p.880

          .         .         .         .         .         .       g.99650
 CACTGTGAAAGGTGTGCTGACGGGTTCTATGGGGACGCTGTGACAGCCAAGAACTGCCGC       c.2700
 H  C  E  R  C  A  D  G  F  Y  G  D  A  V  T  A  K  N  C  R         p.900

   | 20      .         .         .         .         .         .    g.105489
 G | CCTGTGAATGCCATGTGAAAGGCTCCCATTCTGCCGTGTGCCATCTTGAGACCGGGCTC    c.2760
 A |   C  E  C  H  V  K  G  S  H  S  A  V  C  H  L  E  T  G  L      p.920

          .         .         .         .         | 21         .    g.106155
 TGTGACTGCAAACCAAACGTGACTGGACAGCAGTGTGACCAGTGCTTG | CATGGCTATTAT    c.2820
 C  D  C  K  P  N  V  T  G  Q  Q  C  D  Q  C  L   | H  G  Y  Y      p.940

          .         .         .         .         .         .       g.106215
 GGGCTGGACTCAGGCCATGGCTGCCGGCCCTGCAACTGCAGCGTGGCAGGCTCCGTGTCA       c.2880
 G  L  D  S  G  H  G  C  R  P  C  N  C  S  V  A  G  S  V  S         p.960

          .         .         .         .         .         .       g.106275
 GATGGCTGCACGGATGAAGGCCAGTGTCACTGTGTCCCAGGTGTGGCAGGGAAAAGGTGT       c.2940
 D  G  C  T  D  E  G  Q  C  H  C  V  P  G  V  A  G  K  R  C         p.980

          .         .         .         .          | 22        .    g.106967
 GACAGGTGTGCCCATGGCTTCTACGCCTACCAGGATGGTAGCTGTACAC | CCTGTGACTGC    c.3000
 D  R  C  A  H  G  F  Y  A  Y  Q  D  G  S  C  T  P |   C  D  C      p.1000

          .         .         .         .         .         .       g.107027
 CCACACACTCAGAATACCTGCGACCCAGAAACTGGAGAGTGTGTCTGCCCCCCTCACACA       c.3060
 P  H  T  Q  N  T  C  D  P  E  T  G  E  C  V  C  P  P  H  T         p.1020

          .         .         .         .         .         .       g.107087
 CAGGGTGTGAAGTGTGAAGAATGTGAGGATGGGCACTGGGGCTACGATGCGGAGGTGGGG       c.3120
 Q  G  V  K  C  E  E  C  E  D  G  H  W  G  Y  D  A  E  V  G         p.1040

        | 23 .         .         .         .         .         .    g.108817
 TGCCAG | GCCTGCAATTGCAGTCTCGTGGGGTCGACTCATCATCGGTGCGATGTGGTCACC    c.3180
 C  Q   | A  C  N  C  S  L  V  G  S  T  H  H  R  C  D  V  V  T      p.1060

          .         .         .         .         .         .       g.108877
 GGCCATTGCCAGTGCAAGTCAAAATTTGGTGGCCGGGCCTGCGATCAGTGTTCCTTGGGT       c.3240
 G  H  C  Q  C  K  S  K  F  G  G  R  A  C  D  Q  C  S  L  G         p.1080

          .         .         .         .         .         .       g.108937
 TACAGAGACTTTCCCGACTGTGTTCCCTGTGACTGTGACCTGAGGGGGACGTCGGGGGAC       c.3300
 Y  R  D  F  P  D  C  V  P  C  D  C  D  L  R  G  T  S  G  D         p.1100

          .         .         .         .         .         .       g.108997
 GCCTGCAACCTGGAGCAGGGTCTCTGCGGCTGTGTGGAGGAAACCGGGGCCTGCCCTTGC       c.3360
 A  C  N  L  E  Q  G  L  C  G  C  V  E  E  T  G  A  C  P  C         p.1120

     | 24    .         .         .         .         .         .    g.110733
 AAG | GAAAATGTCTTTGGTCCTCAGTGCAACGAATGTCGAGAGGGCACCTTCGCTCTCCGC    c.3420
 K   | E  N  V  F  G  P  Q  C  N  E  C  R  E  G  T  F  A  L  R      p.1140

          .         .         .         .         .         .       g.110793
 GCAGACAACCCCCTGGGCTGCAGCCCGTGCTTCTGCTCCGGGCTGTCCCACCTCTGCTCA       c.3480
 A  D  N  P  L  G  C  S  P  C  F  C  S  G  L  S  H  L  C  S         p.1160

          .         .        | 25.         .         .         .    g.111368
 GAGCTGGAGGACTACGTGAGGACCCCA | GTAACGCTGGGCTCCGATCAGCCTCTTCTGCGT    c.3540
 E  L  E  D  Y  V  R  T  P   | V  T  L  G  S  D  Q  P  L  L  R      p.1180

          .         .         .         .         .         .       g.111428
 GTGGTTTCTCAGAGTAACTTGAGGGGCACGACCGAGGGGGTTTACTACCAGGCCCCCGAC       c.3600
 V  V  S  Q  S  N  L  R  G  T  T  E  G  V  Y  Y  Q  A  P  D         p.1200

          .         .         .         .         .         .       g.111488
 TTCCTGCTGGATGCCGCCACCGTCCGGCAGCACATCCGTGCAGAGCCGTTTTACTGGCGG       c.3660
 F  L  L  D  A  A  T  V  R  Q  H  I  R  A  E  P  F  Y  W  R         p.1220

          .         .        | 26.         .         .         .    g.112462
 CTGCCGCAGCAGTTCCAAGGAGACCAG | CTCATGGCCTATGGTGGCAAACTGAAGTACAGC    c.3720
 L  P  Q  Q  F  Q  G  D  Q   | L  M  A  Y  G  G  K  L  K  Y  S      p.1240

          .         .         .         .         .         .       g.112522
 GTGGCCTTCTATTCTTTGGATGGCGTCGGCACCTCCAATTTTGAGCCTCAAGTTCTCATC       c.3780
 V  A  F  Y  S  L  D  G  V  G  T  S  N  F  E  P  Q  V  L  I         p.1260

          .         .         .         .         .         .       g.112582
 AAAGGTGGTCGGATCAGAAAGCAAGTCATTTACATGGATGCACCAGCCCCAGAGAATGGA       c.3840
 K  G  G  R  I  R  K  Q  V  I  Y  M  D  A  P  A  P  E  N  G         p.1280

          .         .         .    | 27    .         .         .    g.113475
 GTGAGACAGGAACAAGAAGTAGCAATGAGAGAG | AATTTTTGGAAATATTTTAACTCTGTT    c.3900
 V  R  Q  E  Q  E  V  A  M  R  E   | N  F  W  K  Y  F  N  S  V      p.1300

          .         .         .         .         .         .       g.113535
 TCTGAAAAACCTGTCACGCGAGAGGATTTTATGTCTGTCCTCAGCGATATTGAGTACATC       c.3960
 S  E  K  P  V  T  R  E  D  F  M  S  V  L  S  D  I  E  Y  I         p.1320

          .         .         .         .  | 28      .         .    g.114225
 CTCATCAAGGCATCGTATGGTCAAGGATTACAGCAGAGCAG | AATCTCAGACATTTCAATG    c.4020
 L  I  K  A  S  Y  G  Q  G  L  Q  Q  S  R  |  I  S  D  I  S  M      p.1340

          .         .         .         .         .         .       g.114285
 GAGGTTGGCAGAAAGGCTGAAAAGCTGCACCCAGAAGAAGAGGTTGCATCTCTTTTAGAG       c.4080
 E  V  G  R  K  A  E  K  L  H  P  E  E  E  V  A  S  L  L  E         p.1360

          .         .         .         .   | 29     .         .    g.115556
 AATTGTGTCTGTCCTCCTGGCACTGTGGGATTCTCATGTCAG | GACTGCGCCCCTGGGTAC    c.4140
 N  C  V  C  P  P  G  T  V  G  F  S  C  Q   | D  C  A  P  G  Y      p.1380

          .         .         .         .         .         .       g.115616
 CACAGAGGGAAGCTCCCAGCAGGGAGTGACAGGGGACCACGCCCTCTGGTTGCTCCTTGT       c.4200
 H  R  G  K  L  P  A  G  S  D  R  G  P  R  P  L  V  A  P  C         p.1400

          .         .         .         .         .         .       g.115676
 GTTCCCTGCAGTTGCAACAACCACAGTGACACCTGTGACCCCAACACCGGGAAGTGTCTG       c.4260
 V  P  C  S  C  N  N  H  S  D  T  C  D  P  N  T  G  K  C  L         p.1420

  | 30       .         .         .         .         .         .    g.120489
  | AACTGTGGCGATAACACAGCAGGTGACCATTGTGATGTGTGTACTTCTGGCTACTACGGG    c.4320
  | N  C  G  D  N  T  A  G  D  H  C  D  V  C  T  S  G  Y  Y  G      p.1440

          .         .         .         .         .         .       g.120549
 AAGGTGACTGGCTCAGCAAGTGACTGTGCTCTGTGTGCCTGTCCTCACAGCCCTCCTGCC       c.4380
 K  V  T  G  S  A  S  D  C  A  L  C  A  C  P  H  S  P  P  A         p.1460

    | 31     .         .         .         .         .         .    g.122875
 AG | TTTTAGTCCCACTTGTGTCTTGGAAGGGGACCACGATTTCCGTTGTGACGCCTGTCTC    c.4440
 S  |  F  S  P  T  C  V  L  E  G  D  H  D  F  R  C  D  A  C  L      p.1480

          .         .          | 32        .         .         .    g.123207
 CTGGGCTATGAAGGAAAACACTGTGAAAG | GTGCTCCTCAAGCTATTATGGGAACCCTCAA    c.4500
 L  G  Y  E  G  K  H  C  E  R  |  C  S  S  S  Y  Y  G  N  P  Q      p.1500

          .         .         .         .         .         .       g.123267
 ACACCAGGTGGCAGTTGCCAGAAGTGTGACTGCAACCCGCACGGCTCTGTCCACGGTGAC       c.4560
 T  P  G  G  S  C  Q  K  C  D  C  N  P  H  G  S  V  H  G  D         p.1520

          .         .         .         .         .         .       g.123327
 TGTGACCGCACATCTGGGCAGTGCGTTTGCAGGCTGGGGGCCTCGGGGCTCCGGTGCGAT       c.4620
 C  D  R  T  S  G  Q  C  V  C  R  L  G  A  S  G  L  R  C  D         p.1540

          .         .         .         .    | 33    .         .    g.124947
 GAGTGTGAACCGAGGCACATTCTGATGGAAACAGATTGTGTTT | CCTGTGATGATGAGTGT    c.4680
 E  C  E  P  R  H  I  L  M  E  T  D  C  V  S |   C  D  D  E  C      p.1560

          .         .         .         .         .         .       g.125007
 GTAGGTGTGCTGCTGAATGACTTGGATGAGATTGGTGATGCCGTTCTTTCTCTGAACCTC       c.4740
 V  G  V  L  L  N  D  L  D  E  I  G  D  A  V  L  S  L  N  L         p.1580

          .         .         .         .         .         .       g.125067
 ACTGGCATTATCCCTGTCCCATATGGAATTTTGTCAAACCTGGAAAATACAACTAAATAT       c.4800
 T  G  I  I  P  V  P  Y  G  I  L  S  N  L  E  N  T  T  K  Y         p.1600

        | 34 .         .         .         .         .         .    g.127422
 CTCCAG | GAATCTTTATTAAAAGAAAATATGCAAAAGGACCTGGGAAAAATTAAGCTTGAA    c.4860
 L  Q   | E  S  L  L  K  E  N  M  Q  K  D  L  G  K  I  K  L  E      p.1620

          .         .         .       | 35 .         .         .    g.129086
 GGTGTTGCAGAAGAAACGGACAACCTGCAAAAGAAG | CTCACTAGGATGTTAGCGAGTACC    c.4920
 G  V  A  E  E  T  D  N  L  Q  K  K   | L  T  R  M  L  A  S  T      p.1640

          .         .         .         .         .         .       g.129146
 CAAAAGGTGAATAGGGCAACTGAGAGAATCTTCAAGGAGAGTCAAGACCTGGCCATAGCC       c.4980
 Q  K  V  N  R  A  T  E  R  I  F  K  E  S  Q  D  L  A  I  A         p.1660

          .         .         | 36         .         .         .    g.130126
 ATTGAGAGGCTGCAGATGAGCATCACAG | AAATTATGGAAAAGACAACTTTAAATCAGACT    c.5040
 I  E  R  L  Q  M  S  I  T  E |   I  M  E  K  T  T  L  N  Q  T      p.1680

          .         .         .         .         .         .       g.130186
 TTGGATGAAGATTTCCTACTACCCAATTCTACTCTTCAGAACATGCAACAGAATGGTACA       c.5100
 L  D  E  D  F  L  L  P  N  S  T  L  Q  N  M  Q  Q  N  G  T         p.1700

          .         .         .         .         .         .       g.130246
 TCTTTGCTAGAAATCATGCAGATAAGAGACTTCACACAGTTGCACCAAAATGCCACCCTT       c.5160
 S  L  L  E  I  M  Q  I  R  D  F  T  Q  L  H  Q  N  A  T  L         p.1720

          | 37         .         .         .         .         .    g.136519
 GAACTCAA | GGCTGCTGAAGATTTATTGTCACAAATTCAGGAAAATTACCAGAAGCCGCTG    c.5220
 E  L  K  |  A  A  E  D  L  L  S  Q  I  Q  E  N  Y  Q  K  P  L      p.1740

          .         .         .         .         .         .       g.136579
 GAAGAATTGGAGGTATTGAAAGAAGCAGCAAGCCACGTCCTTTCAAAGCACAACAATGAA       c.5280
 E  E  L  E  V  L  K  E  A  A  S  H  V  L  S  K  H  N  N  E         p.1760

          .         .         .         .         .         .       g.136639
 CTAAAGGCGGCTGAGGCGCTCGTGAGGGAAGCTGAGGCAAAGATGCAGGAAAGCAACCAC       c.5340
 L  K  A  A  E  A  L  V  R  E  A  E  A  K  M  Q  E  S  N  H         p.1780

          .         .         .          | 38        .         .    g.137192
 CTGCTGCTCATGGTCAATGCTAATCTGAGAGAATTCAGT | GATAAAAAGCTGCATGTTCAA    c.5400
 L  L  L  M  V  N  A  N  L  R  E  F  S   | D  K  K  L  H  V  Q      p.1800

          .         .         .         .         .         .       g.137252
 GAAGAACAAAATCTGACCTCAGAGCTCATTGTCCAAGGAAGAGGATTGATAGATGCTGCT       c.5460
 E  E  Q  N  L  T  S  E  L  I  V  Q  G  R  G  L  I  D  A  A         p.1820

          .         .         .       | 39 .         .         .    g.137438
 GCTGCACAAACAGATGCTGTACAAGATGCTCTAGAG | CACTTAGAGGATCACCAGGATAAG    c.5520
 A  A  Q  T  D  A  V  Q  D  A  L  E   | H  L  E  D  H  Q  D  K      p.1840

          .         .         .         .         .         .       g.137498
 CTACTTTTATGGTCTGCCAAAATCAGGCACCACATAGATGACCTGGTCATGCACATGTCC       c.5580
 L  L  L  W  S  A  K  I  R  H  H  I  D  D  L  V  M  H  M  S         p.1860

          .         .         .         .         .         .       g.137558
 CAAAGGAACGCAGTCGACCTGGTCTACAGAGCTGAGGACCATGCCGCTGAGTTCCAGAGA       c.5640
 Q  R  N  A  V  D  L  V  Y  R  A  E  D  H  A  A  E  F  Q  R         p.1880

          .         . | 40       .         .         .         .    g.139620
 CTAGCAGATGTTCTGTACAG | TGGCCTTGAAAACATCAGAAATGTGTCCCTGAATGCCACC    c.5700
 L  A  D  V  L  Y  S  |  G  L  E  N  I  R  N  V  S  L  N  A  T      p.1900

          .         .         .         .         .         .       g.139680
 AGTGCAGCCTATGTCCATTACAACATCCAGAGCCTGATTGAAGAATCGGAGGAACTGGCC       c.5760
 S  A  A  Y  V  H  Y  N  I  Q  S  L  I  E  E  S  E  E  L  A         p.1920

          .         .         .       | 41 .         .         .    g.140248
 AGAGATGCTCACAGGACTGTGACTGAGACGAGCCTG | CTCTCAGAATCCCTTGTTTCTAAC    c.5820
 R  D  A  H  R  T  V  T  E  T  S  L   | L  S  E  S  L  V  S  N      p.1940

          .         .         .         .         .         .       g.140308
 GGGAAAGCGGCCGTGCAGCGCAGCTCCAGATTTCTAAAAGAAGGCAACAACCTCAGCAGG       c.5880
 G  K  A  A  V  Q  R  S  S  R  F  L  K  E  G  N  N  L  S  R         p.1960

          . | 42       .         .         .         .         .    g.142227
 AAGCTTCCAG | GTATTGCATTGGAACTGAGTGAATTGAGAAATAAGACAAACAGATTTCAA    c.5940
 K  L  P  G |   I  A  L  E  L  S  E  L  R  N  K  T  N  R  F  Q      p.1980

          .         .         .         .         .         .       g.142287
 GAGAATGCTGTTGAAATTACCAGGCAAACCAATGAATCACTCTTGATACTTAGAGCAATT       c.6000
 E  N  A  V  E  I  T  R  Q  T  N  E  S  L  L  I  L  R  A  I         p.2000

         | 43.         .         .         .         .         .    g.144489
 CCTAAAG | GTATAAGAGACAAGGGAGCCAAAACCAAAGAGCTGGCCACGTCTGCAAGCCAG    c.6060
 P  K  G |   I  R  D  K  G  A  K  T  K  E  L  A  T  S  A  S  Q      p.2020

          .         .         .         .         .         .       g.144549
 AGCGCGGTGAGCACGCTGAGGGACGTGGCGGGGCTGAGCCAGGAGCTGCTGAACACATCT       c.6120
 S  A  V  S  T  L  R  D  V  A  G  L  S  Q  E  L  L  N  T  S         p.2040

          .         .         .         .         .         .       g.144609
 GCCAGCCTGTCCAGGGTCAACACCACATTACGAGAGACACACCAGCTTCTGCAGGACTCC       c.6180
 A  S  L  S  R  V  N  T  T  L  R  E  T  H  Q  L  L  Q  D  S         p.2060

          . | 44       .         .         .         .         .    g.144983
 ACCATGGCCA | CTCTGTTGGCTGGAAGAAAAGTCAAAGACGTGGAAATTCAAGCCAACCTT    c.6240
 T  M  A  T |   L  L  A  G  R  K  V  K  D  V  E  I  Q  A  N  L      p.2080

          .         .         .         .         .         .       g.145043
 TTGTTTGATCGGTTGAAGCCTTTGAAGATGTTAGAGGAGAATCTGAGCAGAAACCTATCA       c.6300
 L  F  D  R  L  K  P  L  K  M  L  E  E  N  L  S  R  N  L  S         p.2100

          .         .         .         .      | 45  .         .    g.146749
 GAAATTAAACTGTTGATCAGCCAGGCCCGCAAACAAGCAGCTTCT | ATTAAAGTCGCCGTG    c.6360
 E  I  K  L  L  I  S  Q  A  R  K  Q  A  A  S   | I  K  V  A  V      p.2120

          .         .         .         .         .         .       g.146809
 TCTGCAGACAGAGATTGCATCCGGGCCTACCAGCCTCAGATTTCCTCTACCAACTACAAT       c.6420
 S  A  D  R  D  C  I  R  A  Y  Q  P  Q  I  S  S  T  N  Y  N         p.2140

          .         .         .         .         .         .       g.146869
 ACCTTAACACTAAATGTTAAGACACAGGAACCCGATAATCTTCTCTTCTACCTCGGTAGC       c.6480
 T  L  T  L  N  V  K  T  Q  E  P  D  N  L  L  F  Y  L  G  S         p.2160

           | 46        .         .         .         .         .    g.147829
 AGCACCGCT | TCTGATTTCCTTGCAGTGGAGATGCGGCGAGGGAGAGTGGCCTTCCTGTGG    c.6540
 S  T  A   | S  D  F  L  A  V  E  M  R  R  G  R  V  A  F  L  W      p.2180

          .         .         .         .         .         .       g.147889
 GACCTGGGCTCCGGGTCCACACGCTTGGAGTTTCCAGACTTTCCCATTGATGACAACAGA       c.6600
 D  L  G  S  G  S  T  R  L  E  F  P  D  F  P  I  D  D  N  R         p.2200

          .         .    | 47    .         .         .         .    g.149644
 TGGCACAGTATCCATGTAGCCAG | ATTTGGAAACATTGGTTCACTGAGTGTAAAGGAAATG    c.6660
 W  H  S  I  H  V  A  R  |  F  G  N  I  G  S  L  S  V  K  E  M      p.2220

          .         .         .         .         .         .       g.149704
 AGCTCAAATCAAAAGTCACCAACAAAAACAAGTAAATCCCCTGGGACAGCTAATGTTCTG       c.6720
 S  S  N  Q  K  S  P  T  K  T  S  K  S  P  G  T  A  N  V  L         p.2240

          .         .         .         .         .     | 48   .    g.150839
 GATGTAAACAATTCAACACTCATGTTTGTTGGAGGTCTTGGAGGACAAATCAAG | AAATCT    c.6780
 D  V  N  N  S  T  L  M  F  V  G  G  L  G  G  Q  I  K   | K  S      p.2260

          .         .         .         .         .         .       g.150899
 CCTGCTGTGAAGGTTACTCATTTTAAAGGCTGCTTGGGGGAGGCCTTCCTGAATGGAAAA       c.6840
 P  A  V  K  V  T  H  F  K  G  C  L  G  E  A  F  L  N  G  K         p.2280

          .         .         .         .         .          | 49    g.156518
 TCCATAGGCCTATGGAACTATATTGAAAGGGAAGGCAAGTGCCGTGGGTGCTTCGGAAG | C    c.6900
 S  I  G  L  W  N  Y  I  E  R  E  G  K  C  R  G  C  F  G  S  |      p.2300

          .         .         .         .         .         .       g.156578
 TCCCAGAATGAAGACCCTTCCTTCCATTTTGACGGGAGTGGGTACTCTGTCGTGGAGAAG       c.6960
 S  Q  N  E  D  P  S  F  H  F  D  G  S  G  Y  S  V  V  E  K         p.2320

          .         .         .         .         .         .       g.156638
 TCACTTCCGGCTACCGTGACCCAGATAATCATGCTTTTTAATACCTTTTCACCTAATGGA       c.7020
 S  L  P  A  T  V  T  Q  I  I  M  L  F  N  T  F  S  P  N  G         p.2340

          .         .         . | 50       .         .         .    g.157412
 CTTCTTCTCTACCTGGGTTCATACGGCACA | AAAGACTTTTTATCCATCGAGCTGTTTCGT    c.7080
 L  L  L  Y  L  G  S  Y  G  T   | K  D  F  L  S  I  E  L  F  R      p.2360

          .         .         .         .         .         .       g.157472
 GGCAGAGTGAAGGTTATGACTGACCTGGGTTCAGGACCCATTACCCTTTTGACAGACAGA       c.7140
 G  R  V  K  V  M  T  D  L  G  S  G  P  I  T  L  L  T  D  R         p.2380

          .         .         .         .         .      | 51  .    g.158016
 CGTTATAACAATGGAACCTGGTACAAAATTGCCTTCCAGCGAAACCGGAAGCAAG | GAGTG    c.7200
 R  Y  N  N  G  T  W  Y  K  I  A  F  Q  R  N  R  K  Q  G |   V      p.2400

          .         .         .         .         .         .       g.158076
 CTAGCAGTTATCGATGCCTATAACACCAGTAATAAAGAAACCAAGCAGGGCGAGACTCCG       c.7260
 L  A  V  I  D  A  Y  N  T  S  N  K  E  T  K  Q  G  E  T  P         p.2420

          .         .         .         .         .         .       g.158136
 GGAGCATCTTCTGACCTCAACCGCCTAGACAAGGACCCGATTTATGTGGGTGGATTACCA       c.7320
 G  A  S  S  D  L  N  R  L  D  K  D  P  I  Y  V  G  G  L  P         p.2440

          .        | 52.         .         .         .         .    g.160798
 AGGTCAAGAGTTGTAAG | GAGAGGTGTCACCACCAAAAGCTTTGTGGGCTGCATCAAGAAC    c.7380
 R  S  R  V  V  R  |  R  G  V  T  T  K  S  F  V  G  C  I  K  N      p.2460

          .         .         .         .         .         .       g.160858
 CTGGAAATATCCAGATCAACCTTTGACTTACTCAGAAATTCCTATGGAGTGAGAAAAGGC       c.7440
 L  E  I  S  R  S  T  F  D  L  L  R  N  S  Y  G  V  R  K  G         p.2480

          .   | 53     .         .         .         .         .    g.161103
 TGTTTACTGGAG | CCCATCCGGAGTGTTAGCTTCCTGAAAGGCGGCTACATTGAATTGCCA    c.7500
 C  L  L  E   | P  I  R  S  V  S  F  L  K  G  G  Y  I  E  L  P      p.2500

          .         .         .         .         .         .       g.161163
 CCCAAATCTTTGTCACCAGAATCAGAATGGCTGGTAACATTTGCCACCACGAACAGCAGT       c.7560
 P  K  S  L  S  P  E  S  E  W  L  V  T  F  A  T  T  N  S  S         p.2520

          .         .         .         .         .         .       g.161223
 GGCATCATCCTGGCTGCCCTCGGCGGGGATGTGGAGAAGCGGGGTGATCGTGAGGAAGCA       c.7620
 G  I  I  L  A  A  L  G  G  D  V  E  K  R  G  D  R  E  E  A         p.2540

        | 54 .         .         .         .         .         .    g.163376
 CACGTG | CCCTTCTTTTCCGTCATGCTGATCGGAGGCAACATTGAGGTACATGTCAATCCT    c.7680
 H  V   | P  F  F  S  V  M  L  I  G  G  N  I  E  V  H  V  N  P      p.2560

          .         .         .         .         .         .       g.163436
 GGGGATGGGACAGGCCTGAGAAAAGCTCTCCTGCACGCTCCCACGGGTACCTGCAGTGAT       c.7740
 G  D  G  T  G  L  R  K  A  L  L  H  A  P  T  G  T  C  S  D         p.2580

          .         .         .         | 55         .         .    g.164174
 GGACAAGCGCATTCCATCTCCTTGGTCAGGAATCGGAG | AATTATCACTGTCCAATTGGAT    c.7800
 G  Q  A  H  S  I  S  L  V  R  N  R  R  |  I  I  T  V  Q  L  D      p.2600

          .         .         .         .         .         .       g.164234
 GAGAACAATCCTGTGGAAATGAAGTTGGGCACATTAGTAGAAAGCAGGACGATAAATGTG       c.7860
 E  N  N  P  V  E  M  K  L  G  T  L  V  E  S  R  T  I  N  V         p.2620

          .         .         .         .         .         .       g.164294
 TCCAATCTGTACGTCGGGGGAATTCCAGAGGGAGAGGGGACGTCACTGCTCACAATGAGA       c.7920
 S  N  L  Y  V  G  G  I  P  E  G  E  G  T  S  L  L  T  M  R         p.2640

          .         .         .         .     | 56   .         .    g.166065
 AGATCGTTCCATGGCTGTATCAAAAACCTGATCTTCAATTTGGA | ACTTTTGGATTTCAAC    c.7980
 R  S  F  H  G  C  I  K  N  L  I  F  N  L  E  |  L  L  D  F  N      p.2660

          .         .         .         .         .         .       g.166125
 AGTGCAGTTGGCCATGAGCAAGTCGACCTGGACACCTGCTGGCTGTCAGAAAGGCCTAAG       c.8040
 S  A  V  G  H  E  Q  V  D  L  D  T  C  W  L  S  E  R  P  K         p.2680

          .         .         .         .         .     | 57   .    g.167355
 CTGGCTCCCGATGCAGAGGACAGCAAGCTCTTGCCAGAGCCCCGGGCTTTTCCA | GAACAG    c.8100
 L  A  P  D  A  E  D  S  K  L  L  P  E  P  R  A  F  P   | E  Q      p.2700

          .         .         .         .         .         .       g.167415
 TGTGTGGTGGATGCAGCTCTGGAGTACGTTCCCGGCGCTCACCAGTTTGGTCTCACACAA       c.8160
 C  V  V  D  A  A  L  E  Y  V  P  G  A  H  Q  F  G  L  T  Q         p.2720

          .         .         .         .        | 58.         .    g.171856
 AACAGCCATTTCATCTTGCCTTTTAATCAGTCGGCTGTCAGAAAGAA | GCTCTCGGTTGAG    c.8220
 N  S  H  F  I  L  P  F  N  Q  S  A  V  R  K  K  |  L  S  V  E      p.2740

          .         .         .         .         .         .       g.171916
 CTAAGCATCCGCACGTTCGCCTCCAGCGGCCTGATTTACTACATGGCTCATCAGAACCAA       c.8280
 L  S  I  R  T  F  A  S  S  G  L  I  Y  Y  M  A  H  Q  N  Q         p.2760

          .         .         .         .         .         .       g.171976
 GCAGACTACGCTGTGCTCCAGCTGCACGGGGGCCGCCTCCACTTCATGTTTGACCTTGGC       c.8340
 A  D  Y  A  V  L  Q  L  H  G  G  R  L  H  F  M  F  D  L  G         p.2780

          .         .         .         .         .        | 59.    g.173558
 AAAGGCAGAACAAAGGTCTCTCACCCTGCACTGCTCAGTGATGGCAAGTGGCACACG | GTC    c.8400
 K  G  R  T  K  V  S  H  P  A  L  L  S  D  G  K  W  H  T   | V      p.2800

          .         .         .         .         .         .       g.173618
 AAGACAGACTATGTTAAAAGAAAAGGCTTCATAACTGTCGACGGCCGAGAGTCTCCCATG       c.8460
 K  T  D  Y  V  K  R  K  G  F  I  T  V  D  G  R  E  S  P  M         p.2820

          .         .         .         .         .         .       g.173678
 GTGACTGTGGTGGGAGATGGAACCATGCTGGATGTGGAGGGTTTGTTCTACCTAGGAGGC       c.8520
 V  T  V  V  G  D  G  T  M  L  D  V  E  G  L  F  Y  L  G  G         p.2840

          .         .         .       | 60 .         .         .    g.174282
 CTGCCCTCCCAGTACCAGGCCAGGAAAATTGGAAAT | ATCACCCACAGCATCCCTGCCTGC    c.8580
 L  P  S  Q  Y  Q  A  R  K  I  G  N   | I  T  H  S  I  P  A  C      p.2860

          .         .         .         .         .         .       g.174342
 ATTGGGGATGTGACGGTTAACAGCAAACAGCTGGACAAGGACAGCCCGGTGTCTGCCTTC       c.8640
 I  G  D  V  T  V  N  S  K  Q  L  D  K  D  S  P  V  S  A  F         p.2880

          .         .         .         .         .         .       g.174402
 ACGGTGAACAGGTGCTACGCAGTGGCCCAGGAAGGAACATACTTTGACGGAAGCGGATAT       c.8700
 T  V  N  R  C  Y  A  V  A  Q  E  G  T  Y  F  D  G  S  G  Y         p.2900

          . | 61       .         .         .         .         .    g.175568
 GCAGCTCTTG | TCAAAGAGGGCTACAAAGTCCAGTCAGATGTGAACATCACACTGGAGTTT    c.8760
 A  A  L  V |   K  E  G  Y  K  V  Q  S  D  V  N  I  T  L  E  F      p.2920

          .         .         .         .         .         .       g.175628
 CGAACCTCCTCGCAGAATGGCGTCCTCCTGGGGATCAGCACTGCCAAAGTGGATGCCATT       c.8820
 R  T  S  S  Q  N  G  V  L  L  G  I  S  T  A  K  V  D  A  I         p.2940

          .         .     | 62   .         .         .         .    g.179448
 GGACTAGAGCTTGTGGACGGCAAG | GTCTTGTTCCATGTCAACAATGGTGCTGGCAGGATA    c.8880
 G  L  E  L  V  D  G  K   | V  L  F  H  V  N  N  G  A  G  R  I      p.2960

          .         .         .         .         .         .       g.179508
 ACAGCTGCATATGAGCCCAAAACCGCCACTGTGCTCTGTGATGGAAAATGGCACACTCTT       c.8940
 T  A  A  Y  E  P  K  T  A  T  V  L  C  D  G  K  W  H  T  L         p.2980

          .         .         .         .         .         .       g.179568
 CAAGCTAACAAAAGCAAACACCGTATCACTCTGATTGTTGACGGGAACGCAGTTGGCGCT       c.9000
 Q  A  N  K  S  K  H  R  I  T  L  I  V  D  G  N  A  V  G  A         p.3000

          .         .         .         .         .         .       g.179628
 GAAAGTCCACACACCCAGTCTACCTCAGTGGACACCAACAATCCCATTTATGTTGGTGGC       c.9060
 E  S  P  H  T  Q  S  T  S  V  D  T  N  N  P  I  Y  V  G  G         p.3020

         | 63.         .         .         .         .         .    g.180628
 TATCCTG | CTGGTGTGAAGCAAAAATGCCTGCGCAGCCAGACCTCGTTCCGCGGGTGTTTG    c.9120
 Y  P  A |   G  V  K  Q  K  C  L  R  S  Q  T  S  F  R  G  C  L      p.3040

          .         .         .         .         .         .       g.180688
 AGGAAGCTAGCTCTGATTAAGAGCCCGCAGGTGCAGTCCTTTGACTTCAGCAGAGCGTTC       c.9180
 R  K  L  A  L  I  K  S  P  Q  V  Q  S  F  D  F  S  R  A  F         p.3060

          .         .         .         .                           g.180736
 GAACTGCACGGAGTTTTCCTTCATTCCTGTCCTGGGACCGAGTCCTGA                   c.9228
 E  L  H  G  V  F  L  H  S  C  P  G  T  E  S  X                     p.3075

          .         .         .         .         .         .       g.180796
 acttcaagcagaatcctcagttggaatcattgctaatattttgaggagaagtgtatgtgt       c.*60

          .         .         .         .         .         .       g.180856
 gaattaagaatctcttcagttcatatttcatttccaactcaggttaagtgtttctgggga       c.*120

          .         .         .         .         .         .       g.180916
 gagatgttgtgtttacgttacactaaaaccacatgtgcaacaaatacctccattaaatgg       c.*180

          .         .         .         .         .         .       g.180976
 tctaaaatgtaaattgaattccctggctctctttttaaacgtatttttaaaaaaatcttt       c.*240

          .         .         .         .         .         .       g.181036
 atacacattgaatgttctgttgattacttgatagtattttatgtttttcattttgagctt       c.*300

          .         .         .                                     g.181071
 tttaaaaaagtatcaatacagatgataacagatca                                c.*335

 (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 Laminin, alpha 1 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.

Powered by LOVD v.3.0 Build 12
©2004-2014 Leiden University Medical Center