laminin, alpha 4 (LAMA4) - coding DNA reference sequence

(used for variant description)

(last modified January 27, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_001105206.2 in the LAMA4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008209.1, covering LAMA4 transcript NM_001105206.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5038
                       gaatattcttctggagcccttggaggggctccaaactg       c.-361

 .         .         .         .         .         .                g.5098
 agaggggagggaagaccgcagggaaaggcggacctcagtgtctgaaaagccagcttagag       c.-301

 .         .         .         .         .         .                g.5158
 tgggagggcctgggagtagaaggtaaaaagggagtggtgagaatgaatgtgagaaggaag       c.-241

 .         .         .         .         .         .                g.5218
 ccaggacagcgcagtccccagtcccgaacggccagggagaggaggtggcctagcgctggc       c.-181

 .         .         .         .         | 02         .             g.5445
 ggggctcaccccaatccgtctgccttttgatgccgtact | ctgctggttgcgcagccacct    c.-121

 .         .         .         .         .         .                g.5505
 cgggatactgcacacggagaggagggaaaataagcgaggcaccgccgcaccacgcgggag       c.-61

 .         .         .         .         .         .                g.5565
 acctacggagacccacagcgcccgagccctggaagagcactactggatgtcagcggagaa       c.-1

          .         .         .         .         .         .       g.5625
 ATGGCTTTGAGCTCAGCCTGGCGCTCGGTTCTGCCTCTGTGGCTCCTCTGGAGCGCTGCC       c.60
 M  A  L  S  S  A  W  R  S  V  L  P  L  W  L  L  W  S  A  A         p.20

          .         .         .         .         .         .       g.5685
 TGCTCCCGCGCCGCGTCCGGGGACGACAACGCTTTTCCTTTTGACATTGAAGGGAGCTCA       c.120
 C  S  R  A  A  S  G  D  D  N  A  F  P  F  D  I  E  G  S  S         p.40

          .         .         .         .         .         .       g.5745
 GCGGTTGGCAGGCAAGACCCGCCTGAGACGAGCGAACCCCGCGTGGCTCTGGGACGCCTG       c.180
 A  V  G  R  Q  D  P  P  E  T  S  E  P  R  V  A  L  G  R  L         p.60

          .      | 03  .         .         .         .         .    g.43292
 CCGCCTGCGGCCGAG | AAATGCAATGCTGGATTCTTTCACACCCTGTCGGGAGAATGTGTG    c.240
 P  P  A  A  E   | K  C  N  A  G  F  F  H  T  L  S  G  E  C  V      p.80

          .         .         .         .         .        | 04.    g.52574
 CCCTGCGACTGTAATGGCAATTCCAACGAGTGTTTGGACGGCTCAGGATACTGTGTG | CAC    c.300
 P  C  D  C  N  G  N  S  N  E  C  L  D  G  S  G  Y  C  V   | H      p.100

          .         .         .         .         .         .       g.52634
 TGCCAGCGGAACACAACAGGAGAGCACTGTGAAAAGTGTCTGGATGGTTATATCGGAGAT       c.360
 C  Q  R  N  T  T  G  E  H  C  E  K  C  L  D  G  Y  I  G  D         p.120

          .         .         .         .         .         .       g.52694
 TCCATCAGGGGAGCACCCCAATTCTGCCAGCCGTGCCCCTGTCCCCTGCCCCACTTGGCC       c.420
 S  I  R  G  A  P  Q  F  C  Q  P  C  P  C  P  L  P  H  L  A         p.140

    | 05     .         .         .         .         .         .    g.58086
 AA | TTTTGCAGAATCCTGCTATAGGAAAAATGGAGCTGTTCGGTGCATTTGTAACGAAAAT    c.480
 N  |  F  A  E  S  C  Y  R  K  N  G  A  V  R  C  I  C  N  E  N      p.160

          .         .    | 06    .         .         .         .    g.67902
 TATGCTGGACCTAACTGTGAAAG | ATGTGCTCCCGGTTACTATGGAAACCCCTTACTCATT    c.540
 Y  A  G  P  N  C  E  R  |  C  A  P  G  Y  Y  G  N  P  L  L  I      p.180

          .         .         .         .         .         .       g.67962
 GGAAGCACCTGTAAGAAATGTGACTGCAGTGGAAATTCAGATCCCAACCTGATCTTTGAA       c.600
 G  S  T  C  K  K  C  D  C  S  G  N  S  D  P  N  L  I  F  E         p.200

          .         .         .         .         .         .       g.68022
 GATTGTGATGAAGTCACTGGCCAGTGTAGGAATTGCTTACGCAACACCACCGGATTCAAG       c.660
 D  C  D  E  V  T  G  Q  C  R  N  C  L  R  N  T  T  G  F  K         p.220

          .         .         .         .         .         | 07    g.70512
 TGTGAACGTTGCGCTCCTGGCTACTATGGGGACGCCAGGATAGCCAAGAACTGTGCAG | TG    c.720
 C  E  R  C  A  P  G  Y  Y  G  D  A  R  I  A  K  N  C  A  V |       p.240

          .         .         .         .         .         .       g.70572
 TGCAACTGCGGGGGAGGCCCATGTGACAGTGTAACCGGAGAATGCTTGGAAGAAGGTTTT       c.780
 C  N  C  G  G  G  P  C  D  S  V  T  G  E  C  L  E  E  G  F         p.260

          .         .         .     | 08   .         .         .    g.72140
 GAACCCCCTACAGGCATGGACTGCCCAACCATAA | GCTGTGATAAGTGCGTCTGGGACCTG    c.840
 E  P  P  T  G  M  D  C  P  T  I  S |   C  D  K  C  V  W  D  L      p.280

          .         .         .         .         .         .       g.72200
 ACTGATGCACTGCGGTTAGCAGCGCTCTCCATCGAGGAAGGCAAATCCGGGGTGCTGAGC       c.900
 T  D  A  L  R  L  A  A  L  S  I  E  E  G  K  S  G  V  L  S         p.300

          .         .         .         .         .         .       g.72260
 GTATCCTCTGGGGCCGCCGCTCATAGGCACGTGAATGAAATCAACGCCACCATCTACCTC       c.960
 V  S  S  G  A  A  A  H  R  H  V  N  E  I  N  A  T  I  Y  L         p.320

        | 09 .         .         .         .         .         .    g.74422
 CTCAAA | ACAAAATTGTCAGAAAGAGAAAACCAATACGCCCTAAGAAAGATACAAATCAAC    c.1020
 L  K   | T  K  L  S  E  R  E  N  Q  Y  A  L  R  K  I  Q  I  N      p.340

          .         .         .         .         .        | 10.    g.81486
 AATGCTGAGAACACGATGAAAAGCCTTCTGTCTGACGTAGAGGAATTAGTTGAAAAG | GAA    c.1080
 N  A  E  N  T  M  K  S  L  L  S  D  V  E  E  L  V  E  K   | E      p.360

          .         .         .         .         .         .       g.81546
 AATCAAGCCTCCAGAAAAGGACAACTTGTTCAGAAGGAAAGCATGGACACCATTAACCAC       c.1140
 N  Q  A  S  R  K  G  Q  L  V  Q  K  E  S  M  D  T  I  N  H         p.380

          .         .         .         .          | 11        .    g.84246
 GCAAGTCAGCTGGTAGAGCAAGCCCATGATATGAGGGATAAAATCCAAG | AGATCAACAAC    c.1200
 A  S  Q  L  V  E  Q  A  H  D  M  R  D  K  I  Q  E |   I  N  N      p.400

          .         .         .         .         .         .       g.84306
 AAGATGCTCTATTATGGGGAAGAGCATGAACTTAGCCCCAAGGAAATCTCTGAGAAGCTG       c.1260
 K  M  L  Y  Y  G  E  E  H  E  L  S  P  K  E  I  S  E  K  L         p.420

          .         .         .         .         .         .       g.84366
 GTGTTGGCCCAGAAGATGCTTGAAGAGATTAGAAGCCGTCAACCATTTTTCACCCAACGG       c.1320
 V  L  A  Q  K  M  L  E  E  I  R  S  R  Q  P  F  F  T  Q  R         p.440

          .         .         .        | 12.         .         .    g.86934
 GAGCTCGTGGATGAGGAGGCAGATGAGGCTTACGAAC | TACTGAGCCAGGCTGAGAGCTGG    c.1380
 E  L  V  D  E  E  A  D  E  A  Y  E  L |   L  S  Q  A  E  S  W      p.460

          .         .         .         .         .         .       g.86994
 CAGCGGCTGCACAATGAGACCCGCACTCTGTTTCCTGTCGTCCTGGAGCAGCTGGATGAC       c.1440
 Q  R  L  H  N  E  T  R  T  L  F  P  V  V  L  E  Q  L  D  D         p.480

          .         .         .         .         .         .       g.87054
 TACAATGCTAAGTTGTCAGATCTCCAGGAAGCACTTGACCAGGCCCTTAACTATGTCAGG       c.1500
 Y  N  A  K  L  S  D  L  Q  E  A  L  D  Q  A  L  N  Y  V  R         p.500

          .         .         .         .         .  | 13      .    g.94448
 GATGCCGAAGACATGAACAGGGCCACAGCAGCCAGGCAGCGGGACCATGAG | AAACAACAG    c.1560
 D  A  E  D  M  N  R  A  T  A  A  R  Q  R  D  H  E   | K  Q  Q      p.520

          .         .         .         .         .         .       g.94508
 GAAAGAGTGAGGGAACAAATGGAAGTGGTGAACATGTCTCTGAGCACATCTGCGGACTCT       c.1620
 E  R  V  R  E  Q  M  E  V  V  N  M  S  L  S  T  S  A  D  S         p.540

          .         .         .         .         | 14         .    g.100847
 CTGACAACACCTCGTCTAACTCTTTCAGAACTTGATGATATAATAAAG | AATGCGTCAGGG    c.1680
 L  T  T  P  R  L  T  L  S  E  L  D  D  I  I  K   | N  A  S  G      p.560

          .         .         .         .         .         .       g.100907
 ATTTATGCAGAAATAGATGGAGCCAAAAGTGAACTACAAGTAAAACTATCTAACCTAAGT       c.1740
 I  Y  A  E  I  D  G  A  K  S  E  L  Q  V  K  L  S  N  L  S         p.580

          .         .         .         .         .         .       g.100967
 AACCTCAGCCATGATTTAGTCCAAGAAGCTATTGACCATGCACAGGACCTTCAACAAGAA       c.1800
 N  L  S  H  D  L  V  Q  E  A  I  D  H  A  Q  D  L  Q  Q  E         p.600

          .        | 15.         .         .         .         .    g.104052
 GCTAATGAATTGAGCAG | GAAGTTGCACAGTTCAGATATGAACGGGCTGGTACAGAAGGCT    c.1860
 A  N  E  L  S  R  |  K  L  H  S  S  D  M  N  G  L  V  Q  K  A      p.620

          .         .         .         .         .         .       g.104112
 TTGGATGCATCAAATGTCTATGAAAATATTGTTAATTATGTTAGTGAAGCCAATGAAACA       c.1920
 L  D  A  S  N  V  Y  E  N  I  V  N  Y  V  S  E  A  N  E  T         p.640

          .         .         .          | 16        .         .    g.104789
 GCAGAATTTGCTTTGAACACCACTGACCGAATTTATGAT | GCGGTGAGTGGGATTGATACT    c.1980
 A  E  F  A  L  N  T  T  D  R  I  Y  D   | A  V  S  G  I  D  T      p.660

          .         .         .         .         .         .       g.104849
 CAAATCATTTACCATAAAGATGAAAGTGAGAACCTCCTCAATCAAGCCAGAGAACTGCAA       c.2040
 Q  I  I  Y  H  K  D  E  S  E  N  L  L  N  Q  A  R  E  L  Q         p.680

          .       | 17 .         .         .         .         .    g.109132
 GCAAAGGCAGAGTCTA | GCAGTGATGAAGCAGTGGCTGACACTAGCAGGCGTGTGGGTGGA    c.2100
 A  K  A  E  S  S |   S  D  E  A  V  A  D  T  S  R  R  V  G  G      p.700

          .         .         .         .         .         .       g.109192
 GCCCTAGCAAGGAAAAGTGCCCTTAAAACCAGACTCAGTGATGCCGTTAAGCAACTACAA       c.2160
 A  L  A  R  K  S  A  L  K  T  R  L  S  D  A  V  K  Q  L  Q         p.720

          .    | 18    .         .         .         .         .    g.111426
 GCAGCAGAGAGAG | GGGATGCCCAGCAGCGCCTGGGGCAGTCTAGACTGATCACCGAGGAA    c.2220
 A  A  E  R  G |   D  A  Q  Q  R  L  G  Q  S  R  L  I  T  E  E      p.740

          .         .         .         .         .         .       g.111486
 GCCAACAGGACGACGATGGAGGTGCAGCAGGCCACTGCCCCCATGGCCAACAATCTAACC       c.2280
 A  N  R  T  T  M  E  V  Q  Q  A  T  A  P  M  A  N  N  L  T         p.760

          .         .         .         .         .         .       g.111546
 AACTGGTCACAGAATCTTCAACATTTTGACTCTTCTGCTTACAACACTGCAGTGAACTCT       c.2340
 N  W  S  Q  N  L  Q  H  F  D  S  S  A  Y  N  T  A  V  N  S         p.780

          .    | 19    .         .         .         .         .    g.114829
 GCTAGGGATGCAG | TAAGAAATCTGACCGAGGTTGTCCCTCAGCTCCTGGATCAGCTTCGT    c.2400
 A  R  D  A  V |   R  N  L  T  E  V  V  P  Q  L  L  D  Q  L  R      p.800

          .         .         .         .         .         .       g.114889
 ACGGTTGAGCAGAAGCGACCTGCAAGCAACGTTTCTGCCAGCATCCAGAGGATCCGAGAG       c.2460
 T  V  E  Q  K  R  P  A  S  N  V  S  A  S  I  Q  R  I  R  E         p.820

          .         .         .    | 20    .         .         .    g.117450
 CTCATTGCTCAGACCAGAAGTGTTGCCAGCAAG | ATCCAAGTCTCCATGATGTTTGATGGC    c.2520
 L  I  A  Q  T  R  S  V  A  S  K   | I  Q  V  S  M  M  F  D  G      p.840

          .         .         .         .         .         .       g.117510
 CAGTCAGCTGTGGAAGTGCACTCGAGAACCAGTATGGATGACTTAAAGGCCTTCACGTCT       c.2580
 Q  S  A  V  E  V  H  S  R  T  S  M  D  D  L  K  A  F  T  S         p.860

          .         .         .         .         .         .       g.117570
 CTGAGCCTGTACATGAAACCCCCTGTGAAGCGGCCGGAACTGACCGAGACTGCAGATCAG       c.2640
 L  S  L  Y  M  K  P  P  V  K  R  P  E  L  T  E  T  A  D  Q         p.880

          .         .        | 21.         .         .         .    g.118245
 TTTATCCTGTACCTCGGAAGCAAAAAC | GCCAAAAAAGAGTATATGGGTCTTGCAATCAAA    c.2700
 F  I  L  Y  L  G  S  K  N   | A  K  K  E  Y  M  G  L  A  I  K      p.900

          .         .         .         .         .         .       g.118305
 AATGATAATCTGGTATACGTCTATAATTTGGGAACTAAAGATGTGGAGATTCCCCTGGAC       c.2760
 N  D  N  L  V  Y  V  Y  N  L  G  T  K  D  V  E  I  P  L  D         p.920

          .         .         .         .         .    | 22    .    g.118800
 TCCAAGCCCGTCAGTTCCTGGCCTGCTTACTTCAGCATTGTCAAGATTGAAAG | GGTGGGA    c.2820
 S  K  P  V  S  S  W  P  A  Y  F  S  I  V  K  I  E  R  |  V  G      p.940

          .         .         .         .         .         .       g.118860
 AAACATGGAAAGGTGTTTTTAACAGTCCCGAGTCTAAGTAGCACAGCAGAGGAAAAGTTC       c.2880
 K  H  G  K  V  F  L  T  V  P  S  L  S  S  T  A  E  E  K  F         p.960

          .         .         .         .         .         .       g.118920
 ATTAAAAAGGGGGAATTTTCGGGAGATGACTCTCTGCTGGACCTGGACCCTGAGGACACA       c.2940
 I  K  K  G  E  F  S  G  D  D  S  L  L  D  L  D  P  E  D  T         p.980

          .         .         .       | 23 .         .         .    g.119854
 GTGTTTTATGTTGGTGGAGTGCCTTCCAACTTCAAG | CTCCCTACCAGCTTAAACCTGCCT    c.3000
 V  F  Y  V  G  G  V  P  S  N  F  K   | L  P  T  S  L  N  L  P      p.1000

          .         .         .         .         .         .       g.119914
 GGCTTTGTTGGCTGCCTGGAACTGGCCACTTTGAATAATGATGTGATCAGCTTGTACAAC       c.3060
 G  F  V  G  C  L  E  L  A  T  L  N  N  D  V  I  S  L  Y  N         p.1020

          .         .         .         .         . | 24       .    g.120434
 TTTAAGCACATCTATAATATGGACCCCTCCACATCAGTGCCATGTGCCCG | AGATAAGCTG    c.3120
 F  K  H  I  Y  N  M  D  P  S  T  S  V  P  C  A  R  |  D  K  L      p.1040

          .         .         .         .         .         .       g.120494
 GCCTTCACTCAGAGTCGGGCTGCCAGTTACTTCTTCGATGGCTCCGGTTATGCCGTGGTG       c.3180
 A  F  T  Q  S  R  A  A  S  Y  F  F  D  G  S  G  Y  A  V  V         p.1060

          .         .         .         .         .         .       g.120554
 AGAGACATCACAAGGAGAGGGAAATTTGGTCAGGTGACTCGCTTTGACATAGAAGTTCGA       c.3240
 R  D  I  T  R  R  G  K  F  G  Q  V  T  R  F  D  I  E  V  R         p.1080

          .         .         .         .   | 25     .         .    g.123479
 ACACCAGCTGACAACGGCCTTATTCTCCTGATGGTCAATGGA | AGTATGTTTTTCAGACTG    c.3300
 T  P  A  D  N  G  L  I  L  L  M  V  N  G   | S  M  F  F  R  L      p.1100

          .         .         .         .         .         .       g.123539
 GAAATGCGCAATGGTTACCTACATGTGTTCTATGATTTTGGATTCAGCGGTGGCCCTGTG       c.3360
 E  M  R  N  G  Y  L  H  V  F  Y  D  F  G  F  S  G  G  P  V         p.1120

          .         .         .         .         .     | 26   .    g.125112
 CATCTTGAAGATACGTTAAAGAAAGCTCAAATTAATGATGCAAAATACCATGAG | ATCTCA    c.3420
 H  L  E  D  T  L  K  K  A  Q  I  N  D  A  K  Y  H  E   | I  S      p.1140

          .         .         .         .         .         .       g.125172
 ATCATTTACCACAATGATAAGAAAATGATCTTGGTAGTTGACAGAAGGCATGTCAAGAGC       c.3480
 I  I  Y  H  N  D  K  K  M  I  L  V  V  D  R  R  H  V  K  S         p.1160

          .         .         .         .         .         .       g.125232
 ATGGATAATGAAAAGATGAAAATACCTTTTACAGATATATACATTGGAGGAGCTCCTCCA       c.3540
 M  D  N  E  K  M  K  I  P  F  T  D  I  Y  I  G  G  A  P  P         p.1180

          .        | 27.         .         .         .         .    g.126271
 GAAATCTTACAATCCAG | GGCCCTCAGAGCACACCTTCCCCTAGATATCAACTTCAGAGGA    c.3600
 E  I  L  Q  S  R  |  A  L  R  A  H  L  P  L  D  I  N  F  R  G      p.1200

          .         .         .         .         .         .       g.126331
 TGCATGAAGGGCTTCCAGTTCCAAAAGAAGGACTTCAATTTACTGGAGCAGACAGAAACC       c.3660
 C  M  K  G  F  Q  F  Q  K  K  D  F  N  L  L  E  Q  T  E  T         p.1220

          .         .         .       | 28 .         .         .    g.126849
 CTGGGAGTTGGTTATGGATGCCCAGAAGACTCACTT | ATATCTCGCAGAGCATATTTCAAT    c.3720
 L  G  V  G  Y  G  C  P  E  D  S  L   | I  S  R  R  A  Y  F  N      p.1240

          .         .         .         .         .         .       g.126909
 GGACAGAGCTTCATTGCTTCAATTCAGAAAATATCTTTCTTTGATGGCTTTGAAGGAGGT       c.3780
 G  Q  S  F  I  A  S  I  Q  K  I  S  F  F  D  G  F  E  G  G         p.1260

          .         .         .         .         .     | 29   .    g.128620
 TTTAATTTCCGAACATTACAACCAAATGGGTTACTATTCTATTATGCTTCAGGG | TCAGAC    c.3840
 F  N  F  R  T  L  Q  P  N  G  L  L  F  Y  Y  A  S  G   | S  D      p.1280

          .         .         .         .         .         .       g.128680
 GTGTTCTCCATCTCACTGGATAATGGTACTGTCATCATGGATGTAAAGGGAATCAAAGTT       c.3900
 V  F  S  I  S  L  D  N  G  T  V  I  M  D  V  K  G  I  K  V         p.1300

          .         .         .         .         .         .       g.128740
 CAGTCAGTAGATAAGCAGTACAATGATGGGCTGTCCCACTTCGTCATTAGCTCTGTCTCA       c.3960
 Q  S  V  D  K  Q  Y  N  D  G  L  S  H  F  V  I  S  S  V  S         p.1320

          | 30         .         .         .         .         .    g.129727
 CCCACAAG | ATATGAACTGATAGTAGATAAAAGCAGAGTTGGGAGTAAGAATCCTACCAAA    c.4020
 P  T  R  |  Y  E  L  I  V  D  K  S  R  V  G  S  K  N  P  T  K      p.1340

          .         .         .         .         .         .       g.129787
 GGGAAAATAGAACAGACACAAGCAAGTGAAAAGAAGTTTTACTTCGGTGGCTCACCAATC       c.4080
 G  K  I  E  Q  T  Q  A  S  E  K  K  F  Y  F  G  G  S  P  I         p.1360

          .         .         .         .         .    | 31    .    g.130647
 AGTGCTCAGTATGCTAATTTCACTGGCTGCATAAGTAATGCCTACTTTACCAG | GGTGGAT    c.4140
 S  A  Q  Y  A  N  F  T  G  C  I  S  N  A  Y  F  T  R  |  V  D      p.1380

          .         .         .         .         .         .       g.130707
 AGAGATGTGGAGGTTGAAGATTTCCAACGGTATACTGAAAAGGTCCACACTTCTCTTTAT       c.4200
 R  D  V  E  V  E  D  F  Q  R  Y  T  E  K  V  H  T  S  L  Y         p.1400

          .         .         .         .         .         .       g.130767
 GAGTGTCCCATTGAGTCTTCACCATTGTTTCTCCTCCATAAAAAAGGAAAAAATTTATCC       c.4260
 E  C  P  I  E  S  S  P  L  F  L  L  H  K  K  G  K  N  L  S         p.1420

          .         .        | 32.         .         .         .    g.137546
 AAGCCTAAAGCAAGTCAGAATAAAAAG | GGAGGGAAAAGTAAAGATGCACCTTCATGGGAT    c.4320
 K  P  K  A  S  Q  N  K  K   | G  G  K  S  K  D  A  P  S  W  D      p.1440

          .         .         .         .         .         .       g.137606
 CCTGTTGCTCTGAAACTCCCAGAGCGGAATACTCCAAGAAACTCTCATTGCCACCTTTCC       c.4380
 P  V  A  L  K  L  P  E  R  N  T  P  R  N  S  H  C  H  L  S         p.1460

          .         .         .         .         .         .       g.137666
 AACAGCCCTAGAGCAATAGAGCACGCCTATCAATATGGAGGAACAGCCAACAGCCGCCAA       c.4440
 N  S  P  R  A  I  E  H  A  Y  Q  Y  G  G  T  A  N  S  R  Q         p.1480

          .         .         .      | 33  .         .         .    g.139267
 GAGTTTGAACACTTAAAAGGAGATTTTGGTGCCAA | ATCTCAGTTTTCCATTCGTCTGAGA    c.4500
 E  F  E  H  L  K  G  D  F  G  A  K  |  S  Q  F  S  I  R  L  R      p.1500

          .         .         .         .         .         .       g.139327
 ACTCGTTCCTCCCATGGCATGATCTTCTATGTCTCAGATCAAGAAGAGAATGACTTCATG       c.4560
 T  R  S  S  H  G  M  I  F  Y  V  S  D  Q  E  E  N  D  F  M         p.1520

          .         .         .         .         .         .       g.139387
 ACTCTATTTTTGGCCCATGGCCGCTTGGTTTACATGTTTAATGTTGGTCACAAAAAACTG       c.4620
 T  L  F  L  A  H  G  R  L  V  Y  M  F  N  V  G  H  K  K  L         p.1540

          .         .         .         .      | 34  .         .    g.140418
 AAGATTAGAAGCCAGGAGAAATACAATGATGGCCTGTGGCATGAT | GTGATATTTATTCGA    c.4680
 K  I  R  S  Q  E  K  Y  N  D  G  L  W  H  D   | V  I  F  I  R      p.1560

          .         .         .         .         .         .       g.140478
 GAAAGGAGCAGTGGCCGACTGGTAATTGATGGTCTCCGAGTCCTAGAAGAAAGTCTTCCT       c.4740
 E  R  S  S  G  R  L  V  I  D  G  L  R  V  L  E  E  S  L  P         p.1580

          .         .         .         .         .         .       g.140538
 CCTACTGAAGCTACCTGGAAAATCAAGGGTCCCATTTATTTGGGAGGTGTGGCTCCTGGA       c.4800
 P  T  E  A  T  W  K  I  K  G  P  I  Y  L  G  G  V  A  P  G         p.1600

          .         .  | 35      .         .         .         .    g.141855
 AAGGCTGTGAAAAATGTTCAG | ATTAACTCCATCTACAGTTTTAGTGGCTGTCTCAGCAAT    c.4860
 K  A  V  K  N  V  Q   | I  N  S  I  Y  S  F  S  G  C  L  S  N      p.1620

          .         .         .         .         .         .       g.141915
 CTCCAGCTCAATGGGGCCTCCATCACCTCTGCTTCTCAGACATTCAGTGTGACCCCTTGC       c.4920
 L  Q  L  N  G  A  S  I  T  S  A  S  Q  T  F  S  V  T  P  C         p.1640

          .         .         .         .         .         .       g.141975
 TTTGAAGGCCCCATGGAAACAGGAACTTACTTTTCAACAGAAGGAGGATACGTGGTTCTA       c.4980
 F  E  G  P  M  E  T  G  T  Y  F  S  T  E  G  G  Y  V  V  L         p.1660

   | 36      .         .         .         .         .         .    g.143780
 G | ATGAATCTTTCAATATTGGATTGAAGTTTGAAATTGCATTTGAAGTCCGTCCCAGAAGC    c.5040
 D |   E  S  F  N  I  G  L  K  F  E  I  A  F  E  V  R  P  R  S      p.1680

          .         .         .         .         .         .       g.143840
 AGTTCCGGAACCCTGGTCCACGGCCACAGTGTCAATGGGGAGTACCTAAATGTTCACATG       c.5100
 S  S  G  T  L  V  H  G  H  S  V  N  G  E  Y  L  N  V  H  M         p.1700

          .   | 37     .         .         .         .         .    g.145006
 AAAAATGGACAG | GTCATAGTGAAAGTCAATAATGGCATCAGAGATTTTTCCACCTCAGTT    c.5160
 K  N  G  Q   | V  I  V  K  V  N  N  G  I  R  D  F  S  T  S  V      p.1720

          .         .         .         .       | 38 .         .    g.145533
 ACACCCAAGCAGAGTCTCTGTGATGGCAGATGGCACAGAATTACAG | TTATTAGAGATTCT    c.5220
 T  P  K  Q  S  L  C  D  G  R  W  H  R  I  T  V |   I  R  D  S      p.1740

          .         .         .         .         .         .       g.145593
 AATGTGGTTCAGTTGGATGTGGACTCTGAAGTGAACCATGTGGTTGGACCCCTGAATCCA       c.5280
 N  V  V  Q  L  D  V  D  S  E  V  N  H  V  V  G  P  L  N  P         p.1760

          .         .         .         .       | 39 .         .    g.150146
 AAACCAATTGATCACAGGGAGCCTGTGTTTGTTGGAGGTGTTCCAG | AATCTCTACTGACA    c.5340
 K  P  I  D  H  R  E  P  V  F  V  G  G  V  P  E |   S  L  L  T      p.1780

          .         .         .         .         .         .       g.150206
 CCACGCTTGGCCCCCAGCAAACCCTTCACAGGCTGCATACGCCACTTTGTGATTGATGGA       c.5400
 P  R  L  A  P  S  K  P  F  T  G  C  I  R  H  F  V  I  D  G         p.1800

          .         .         .         .         .         .       g.150266
 CACCCAGTGAGCTTCAGTAAAGCAGCCCTGGTCAGCGGCGCCGTAAGCATCAACTCCTGT       c.5460
 H  P  V  S  F  S  K  A  A  L  V  S  G  A  V  S  I  N  S  C         p.1820

          .                                                         g.150278
 CCAGCAGCCTGA                                                       c.5472
 P  A  A  X                                                         p.1823

          .         .         .         .         .         .       g.150338
 catgacagagcacagctgcccaaatacaaagttctttagagcactgaaagaaacacaaag       c.*60

          .         .         .         .         .         .       g.150398
 ccagccaggaggaacagtaactcttccttcgggtggaagctttcatcgagttgaacagga       c.*120

          .         .         .         .         .         .       g.150458
 cttaaacgaatcatcagggaccggatatttcttatttctcatttggattcttaaccttga       c.*180

          .         .         .         .         .         .       g.150518
 atccaaagtgtctgcaatggacaacaattgaaggagtggcaaacttacttgtattgagag       c.*240

          .         .         .         .         .         .       g.150578
 cacacgcaattcctactggtgaaattactgtttctgtttctaataaaatagaagggattc       c.*300

          .         .         .         .         .         .       g.150638
 caaataaacacttgcacacatttttgaagtgcggctagattctcagattcacctttcttc       c.*360

          .         .         .         .         .         .       g.150698
 cagggaagataactttcaatctatataaaaatctctgtcctaaaactacctttctttatt       c.*420

          .         .         .         .         .         .       g.150758
 ttgaagagacttactaacttacatataatctaaattagatgatagatttgtttttagccc       c.*480

          .         .         .         .         .         .       g.150818
 ttttgtttggtctatcagtataagaagaatattttaggtttatagctgaagttatcaagg       c.*540

          .         .         .         .         .         .       g.150878
 tttaataaagtaaatttctaacagaatactagaaaaatgcagtataatttaattttttct       c.*600

          .         .         .         .         .         .       g.150938
 aaataagaaacacaggaaatcaactactttttccccttccttatctccttaaaagaaaaa       c.*660

          .         .         .         .         .         .       g.150998
 taaaattgtacatgagaggaggcttctgtaggttattattaccattattgtgtgttctat       c.*720

          .         .         .         .         .         .       g.151058
 gggaatcattgaggatatcacagcaaaaacagtaggacaaaatcataaaattcaatttaa       c.*780

          .         .         .         .         .         .       g.151118
 gagtacacaagtccttttattaaaagtttgctcctagcctgggcaacataatgagatccc       c.*840

          .         .         .         .         .         .       g.151178
 atctctgcaaaaaaatttgtacatgggcatacacctgtagtcccagctacttgggaggct       c.*900

          .         .         .         .         .         .       g.151238
 gagacgggaggatcgcttaagctcaggagttcaaggctgcagtgagctatgactgctgac       c.*960

          .         .         .         .         .         .       g.151298
 tgtacctgcactccagcctgggcaacagagtgagatcctgtctcaaaaacaaagtgtgct       c.*1020

          .         .         .         .         .         .       g.151358
 ctccacatacctgcaacacaactagtcttatttctaaaatgttataatcttttttccaag       c.*1080

          .         .         .         .         .         .       g.151418
 tagctacattaatatagtctagaaaaaaatggacttgaatagctggtagaatattaaaat       c.*1140

          .         .         .         .         .         .       g.151478
 atagaaatgaaataaaagaattatatctaaaaacctcaactcagaagacagaaaaagaga       c.*1200

          .         .         .         .         .         .       g.151538
 aaataggccctgatatcaacagaattaacaatacataaaaggagtaacttttgaggggag       c.*1260

          .         .         .         .         .         .       g.151598
 aggatataaaatattttgaggaattaccaaggggaataaaacaatgttaccttgaaatga       c.*1320

          .         .         .         .         .         .       g.151658
 ttatatatatattacatattggtatatatgtccatacctacctatatcccctgctaccct       c.*1380

          .         .         .         .         .         .       g.151718
 tctgtctgaaatatacaaataatgataatgttgaagatatcgataaacatagctaatgtc       c.*1440

          .         .         .         .         .         .       g.151778
 tgttcatagaggacttactaagtgccagccaccatgataagctaaagttaattattttat       c.*1500

                                                                    g.151784
 ttgttc                                                             c.*1506

 (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 4 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 14c
©2004-2016 Leiden University Medical Center