tuberous sclerosis 1 (TSC1) - coding DNA reference sequence

(used for variant description)

(last modified September 5, 2013)


This file was created to facilitate the description of sequence variants on transcript NM_000368.4 in the TSC1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012386.1, covering TSC1 transcript NM_000368.4.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5054
       acgacgggggaggtgctgtacgtccaagatggcggcgccctgtaggctggaggg       c.-181

 .         .         .         .       | 02 .         .             g.14561
 actgtgaggtaaacagctgagggggaggagacggtgg | tgaccatgaaagacaccaggttg    c.-121

 .         .         .         .          | 03        .             g.20701
 acagcactggaaactgaagtaccagttgtcgctagaacag | tttggtagtggccccaatga    c.-61

 .         .         .         .         .         .                g.20761
 agaaccttcagaacctgtagcacacgtcctggagccagcacagcgccttcgagcgagaga       c.-1

          .         .         .         .         .         .       g.20821
 ATGGCCCAACAAGCAAATGTCGGGGAGCTTCTTGCCATGCTGGACTCCCCCATGCTGGGT       c.60
 M  A  Q  Q  A  N  V  G  E  L  L  A  M  L  D  S  P  M  L  G         p.20

          .         .         .         .       | 04 .         .    g.22343
 GTGCGGGACGACGTGACAGCTGTCTTTAAAGAGAACCTCAATTCTG | ACCGTGGCCCTATG    c.120
 V  R  D  D  V  T  A  V  F  K  E  N  L  N  S  D |   R  G  P  M      p.40

          .         .         .         .         .         .       g.22403
 CTTGTAAACACCTTGGTGGATTATTACCTGGAAACCAGCTCTCAGCCGGCATTGCACATC       c.180
 L  V  N  T  L  V  D  Y  Y  L  E  T  S  S  Q  P  A  L  H  I         p.60

          .         .         . | 05       .         .         .    g.23924
 CTGACCACCTTGCAAGAGCCACATGACAAG | CACCTCTTGGACAGGATTAACGAATATGTG    c.240
 L  T  T  L  Q  E  P  H  D  K   | H  L  L  D  R  I  N  E  Y  V      p.80

          .         .         .         .         .         .       g.23984
 GGCAAAGCCGCCACTCGTTTATCCATCCTCTCGTTACTGGGTCATGTCATAAGACTGCAG       c.300
 G  K  A  A  T  R  L  S  I  L  S  L  L  G  H  V  I  R  L  Q         p.100

          .         .         .         .         .         .       g.24044
 CCATCTTGGAAGCATAAGCTCTCTCAAGCACCTCTTTTGCCTTCTTTACTAAAATGTCTC       c.360
 P  S  W  K  H  K  L  S  Q  A  P  L  L  P  S  L  L  K  C  L         p.120

     | 06    .         .         .         .         .         .    g.26198
 AAG | ATGGACACTGACGTCGTTGTCCTCACAACAGGCGTCTTGGTGTTGATAACCATGCTA    c.420
 K   | M  D  T  D  V  V  V  L  T  T  G  V  L  V  L  I  T  M  L      p.140

          .         .         .         .         .         .       g.26258
 CCAATGATTCCACAGTCTGGGAAACAGCATCTTCTTGATTTCTTTGACATTTTTGGCCGT       c.480
 P  M  I  P  Q  S  G  K  Q  H  L  L  D  F  F  D  I  F  G  R         p.160

          .         .         | 07         .         .         .    g.27692
 CTGTCATCATGGTGCCTGAAGAAACCAG | GCCACGTGGCGGAAGTCTATCTCGTCCATCTC    c.540
 L  S  S  W  C  L  K  K  P  G |   H  V  A  E  V  Y  L  V  H  L      p.180

          .         .         .         .         .         .       g.27752
 CATGCCAGTGTGTACGCACTCTTTCATCGCCTTTATGGAATGTACCCTTGCAACTTCGTC       c.600
 H  A  S  V  Y  A  L  F  H  R  L  Y  G  M  Y  P  C  N  F  V         p.200

          .         .         .         .         .         .       g.27812
 TCCTTTTTGCGTTCTCATTACAGTATGAAAGAAAACCTGGAGACTTTTGAAGAAGTGGTC       c.660
 S  F  L  R  S  H  Y  S  M  K  E  N  L  E  T  F  E  E  V  V         p.220

     | 08    .         .         .         .         .         .    g.28254
 AAG | CCAATGATGGAGCATGTGCGAATTCATCCGGAATTAGTGACTGGATCCAAGGACCAT    c.720
 K   | P  M  M  E  H  V  R  I  H  P  E  L  V  T  G  S  K  D  H      p.240

          .        | 09.         .         .         .         .    g.37219
 GAACTGGACCCTCGAAG | GTGGAAGAGATTAGAAACTCATGATGTTGTGATCGAGTGTGCC    c.780
 E  L  D  P  R  R  |  W  K  R  L  E  T  H  D  V  V  I  E  C  A      p.260

          .         .         .         .         .         .       g.37279
 AAAATCTCTCTGGATCCCACAGAAGCCTCATATGAAGATGGCTATTCTGTGTCTCACCAA       c.840
 K  I  S  L  D  P  T  E  A  S  Y  E  D  G  Y  S  V  S  H  Q         p.280

          .         .         .         .         .         .       g.37339
 ATCTCAGCCCGCTTTCCTCATCGTTCAGCCGATGTCACCACCAGCCCTTATGCTGACACA       c.900
 I  S  A  R  F  P  H  R  S  A  D  V  T  T  S  P  Y  A  D  T         p.300

          .    | 10    .         .         .         .         .    g.38112
 CAGAATAGCTATG | GGTGTGCTACTTCTACCCCTTACTCCACGTCTCGGCTGATGTTGTTA    c.960
 Q  N  S  Y  G |   C  A  T  S  T  P  Y  S  T  S  R  L  M  L  L      p.320

          .         .         .         .         .         .       g.38172
 AATATGCCAGGGCAGCTACCTCAGACTCTGAGTTCCCCATCGACACGGCTGATAACTGAA       c.1020
 N  M  P  G  Q  L  P  Q  T  L  S  S  P  S  T  R  L  I  T  E         p.340

           | 11        .         .         .         .         .    g.38571
 CCACCACAA | GCTACTCTTTGGAGCCCATCTATGGTTTGTGGTATGACCACTCCTCCAACT    c.1080
 P  P  Q   | A  T  L  W  S  P  S  M  V  C  G  M  T  T  P  P  T      p.360

          .         .         .         .         .         .       g.38631
 TCTCCTGGAAATGTCCCACCTGATCTGTCACACCCTTACAGTAAAGTCTTTGGTACAACT       c.1140
 S  P  G  N  V  P  P  D  L  S  H  P  Y  S  K  V  F  G  T  T         p.380

   | 12      .         .         .         .         .         .    g.39000
 G | CAGGTGGAAAAGGAACTCCTCTGGGAACCCCAGCAACCTCTCCTCCTCCAGCCCCACTC    c.1200
 A |   G  G  K  G  T  P  L  G  T  P  A  T  S  P  P  P  A  P  L      p.400

          .         .         .         .         .         .       g.39060
 TGTCATTCGGATGACTACGTGCACATTTCACTCCCCCAGGCCACAGTCACACCCCCCAGG       c.1260
 C  H  S  D  D  Y  V  H  I  S  L  P  Q  A  T  V  T  P  P  R         p.420

     | 13    .         .         .         .         .         .    g.42320
 AAG | GAAGAGAGAATGGATTCTGCAAGACCATGTCTACACAGACAACACCATCTTCTGAAT    c.1320
 K   | E  E  R  M  D  S  A  R  P  C  L  H  R  Q  H  H  L  L  N      p.440

          .    | 14    .         .         .         .         .    g.42845
 GACAGAGGATCAG | AAGAGCCACCTGGCAGCAAAGGTTCTGTCACTCTAAGTGATCTTCCA    c.1380
 D  R  G  S  E |   E  P  P  G  S  K  G  S  V  T  L  S  D  L  P      p.460

          .         .         .         .         .         | 15    g.43496
 GGGTTTTTAGGTGATCTGGCCTCTGAAGAAGATAGTATTGAAAAAGATAAAGAAGAAG | CT    c.1440
 G  F  L  G  D  L  A  S  E  E  D  S  I  E  K  D  K  E  E  A |       p.480

          .         .         .         .         .         .       g.43556
 GCAATATCTAGAGAACTTTCTGAGATCACCACAGCAGAGGCAGAGCCTGTGGTTCCTCGA       c.1500
 A  I  S  R  E  L  S  E  I  T  T  A  E  A  E  P  V  V  P  R         p.500

          .         .         .         .         .         .       g.43616
 GGAGGCTTTGACTCTCCCTTTTACCGAGACAGTCTCCCAGGTTCTCAGCGGAAGACCCAC       c.1560
 G  G  F  D  S  P  F  Y  R  D  S  L  P  G  S  Q  R  K  T  H         p.520

          .         .         .         .         .         .       g.43676
 TCGGCAGCCTCCAGTTCTCAGGGCGCCAGCGTGAACCCTGAGCCTTTACACTCCTCCCTG       c.1620
 S  A  A  S  S  S  Q  G  A  S  V  N  P  E  P  L  H  S  S  L         p.540

          .         .         .         .         .         .       g.43736
 GACAAGCTTGGGCCTGACACACCAAAGCAAGCCTTTACTCCCATAGACCTGCCCTGCGGC       c.1680
 D  K  L  G  P  D  T  P  K  Q  A  F  T  P  I  D  L  P  C  G         p.560

          .         .         .         .         .         .       g.43796
 AGTGCTGATGAAAGCCCTGCGGGAGACAGGGAATGCCAGACTTCTTTGGAGACCAGTATC       c.1740
 S  A  D  E  S  P  A  G  D  R  E  C  Q  T  S  L  E  T  S  I         p.580

          .         .         .         .         .         .       g.43856
 TTCACTCCCAGTCCTTGTAAAATTCCACCTCCGACGAGAGTGGGCTTTGGAAGCGGGCAG       c.1800
 F  T  P  S  P  C  K  I  P  P  P  T  R  V  G  F  G  S  G  Q         p.600

          .         .         .         .         .         .       g.43916
 CCTCCCCCGTATGATCATCTTTTTGAGGTGGCATTGCCAAAGACAGCCCATCATTTTGTC       c.1860
 P  P  P  Y  D  H  L  F  E  V  A  L  P  K  T  A  H  H  F  V         p.620

          .         .         .         .         .         .       g.43976
 ATCAGGAAGACTGAGGAGCTGTTAAAGAAAGCAAAAGGAAACACAGAGGAAGATGGTGTG       c.1920
 I  R  K  T  E  E  L  L  K  K  A  K  G  N  T  E  E  D  G  V         p.640

          .         .         .         .         .         .       g.44036
 CCCTCTACCTCCCCAATGGAAGTGCTGGACAGACTGATACAGCAGGGAGCAGACGCGCAC       c.1980
 P  S  T  S  P  M  E  V  L  D  R  L  I  Q  Q  G  A  D  A  H         p.660

          .        | 16.         .         .         .         .    g.45222
 AGCAAGGAGCTGAACAA | GTTGCCTTTACCCAGCAAGTCTGTCGACTGGACCCACTTTGGA    c.2040
 S  K  E  L  N  K  |  L  P  L  P  S  K  S  V  D  W  T  H  F  G      p.680

   | 17      .         .         .         .         .         .    g.45875
 G | GCTCTCCTCCTTCAGATGAGATCCGCACCCTCCGAGACCAGTTGCTTTTACTGCACAAC    c.2100
 G |   S  P  P  S  D  E  I  R  T  L  R  D  Q  L  L  L  L  H  N      p.700

          .         .         .         .         .         .       g.45935
 CAGTTACTCTATGAGCGTTTTAAGAGGCAGCAGCATGCCCTCCGGAACAGGCGGCTCCTC       c.2160
 Q  L  L  Y  E  R  F  K  R  Q  Q  H  A  L  R  N  R  R  L  L         p.720

          .         .         .         .         | 18         .    g.46858
 CGCAAGGTGATCAAAGCAGCAGCTCTGGAGGAACATAATGCTGCCATG | AAAGATCAGTTG    c.2220
 R  K  V  I  K  A  A  A  L  E  E  H  N  A  A  M   | K  D  Q  L      p.740

          .         .         .         .         .         .       g.46918
 AAGTTACAAGAGAAGGACATCCAGATGTGGAAGGTTAGTCTGCAGAAAGAACAAGCTAGA       c.2280
 K  L  Q  E  K  D  I  Q  M  W  K  V  S  L  Q  K  E  Q  A  R         p.760

          .         .         .         .         .         .       g.46978
 TACAATCAGCTCCAGGAGCAGCGTGACACTATGGTAACCAAGCTCCACAGCCAGATCAGA       c.2340
 Y  N  Q  L  Q  E  Q  R  D  T  M  V  T  K  L  H  S  Q  I  R         p.780

          .         .         .         .         .  | 19      .    g.47943
 CAGCTGCAGCATGACCGAGAGGAATTCTACAACCAGAGCCAGGAATTACAG | ACGAAGCTG    c.2400
 Q  L  Q  H  D  R  E  E  F  Y  N  Q  S  Q  E  L  Q   | T  K  L      p.800

          .         .         .         .         .         .       g.48003
 GAGGACTGCAGGAACATGATTGCGGAGCTGCGGATAGAACTGAAGAAGGCCAACAACAAG       c.2460
 E  D  C  R  N  M  I  A  E  L  R  I  E  L  K  K  A  N  N  K         p.820

          .         .         .         .   | 20     .         .    g.48814
 GTGTGTCACACTGAGCTGCTGCTCAGTCAGGTTTCCCAAAAG | CTCTCAAACAGTGAGTCG    c.2520
 V  C  H  T  E  L  L  L  S  Q  V  S  Q  K   | L  S  N  S  E  S      p.840

          .         .         .         .         .         .       g.48874
 GTCCAGCAGCAGATGGAGTTCTTGAACAGGCAGCTGTTGGTTCTTGGGGAGGTCAACGAG       c.2580
 V  Q  Q  Q  M  E  F  L  N  R  Q  L  L  V  L  G  E  V  N  E         p.860

          .         .         .         .      | 21  .         .    g.52038
 CTCTATTTGGAACAACTGCAGAACAAGCACTCAGATACCACAAAG | GAAGTAGAAATGATG    c.2640
 L  Y  L  E  Q  L  Q  N  K  H  S  D  T  T  K   | E  V  E  M  M      p.880

          .         .         .         .         .         .       g.52098
 AAAGCCGCCTATCGGAAAGAGCTAGAAAAAAACAGAAGCCATGTTCTCCAGCAGACTCAG       c.2700
 K  A  A  Y  R  K  E  L  E  K  N  R  S  H  V  L  Q  Q  T  Q         p.900

          .         .         .         .         .         .       g.52158
 AGGCTTGATACCTCCCAAAAACGGATTTTGGAACTGGAATCTCACCTGGCCAAGAAAGAC       c.2760
 R  L  D  T  S  Q  K  R  I  L  E  L  E  S  H  L  A  K  K  D         p.920

          .         .         .         .         .    | 22    .    g.52295
 CACCTTCTTTTGGAACAGAAGAAATATCTAGAGGATGTCAAACTCCAGGCAAG | AGGACAG    c.2820
 H  L  L  L  E  Q  K  K  Y  L  E  D  V  K  L  Q  A  R  |  G  Q      p.940

          .         .         .         .         .         .       g.52355
 CTGCAGGCCGCAGAGAGCAGGTATGAGGCTCAGAAAAGGATAACCCAGGTGTTTGAATTG       c.2880
 L  Q  A  A  E  S  R  Y  E  A  Q  K  R  I  T  Q  V  F  E  L         p.960

          .         .         .         .         .         .       g.52415
 GAGATCTTAGATTTATATGGCAGGTTGGAGAAAGATGGCCTCCTGAAAAAACTTGAAGAA       c.2940
 E  I  L  D  L  Y  G  R  L  E  K  D  G  L  L  K  K  L  E  E         p.980

          .         .         .      | 23  .         .         .    g.52904
 GAAAAAGCAGAAGCAGCTGAAGCAGCAGAAGAAAG | GCTTGACTGTTGTAATGACGGGTGC    c.3000
 E  K  A  E  A  A  E  A  A  E  E  R  |  L  D  C  C  N  D  G  C      p.1000

          .         .         .         .         .         .       g.52964
 TCAGATTCCATGGTAGGGCACAATGAAGAGGCATCTGGCCACAACGGTGAGACCAAGACC       c.3060
 S  D  S  M  V  G  H  N  E  E  A  S  G  H  N  G  E  T  K  T         p.1020

          .         .         .         .         .         .       g.53024
 CCCAGGCCCAGCAGCGCCCGGGGCAGTAGTGGAAGCAGAGGTGGTGGAGGCAGCAGCAGC       c.3120
 P  R  P  S  S  A  R  G  S  S  G  S  R  G  G  G  G  S  S  S         p.1040

          .         .         .         .         .         .       g.53084
 AGCAGCAGCGAGCTTTCTACCCCAGAGAAACCCCCACACCAGAGGGCAGGCCCATTCAGC       c.3180
 S  S  S  E  L  S  T  P  E  K  P  P  H  Q  R  A  G  P  F  S         p.1060

          .         .         .         .         .         .       g.53144
 AGTCGGTGGGAGACGACTATGGGAGAAGCGTCTGCCAGCATCCCCACCACTGTGGGCTCA       c.3240
 S  R  W  E  T  T  M  G  E  A  S  A  S  I  P  T  T  V  G  S         p.1080

          .         .         .         .         .         .       g.53204
 CTTCCCAGTTCAAAAAGCTTCCTGGGTATGAAGGCTCGAGAGTTATTTCGTAATAAGAGC       c.3300
 L  P  S  S  K  S  F  L  G  M  K  A  R  E  L  F  R  N  K  S         p.1100

          .         .         .         .         .         .       g.53264
 GAGAGCCAGTGTGATGAGGACGGCATGACCAGTAGCCTTTCTGAGAGCCTAAAGACAGAA       c.3360
 E  S  Q  C  D  E  D  G  M  T  S  S  L  S  E  S  L  K  T  E         p.1120

          .         .         .         .         .         .       g.53324
 CTGGGCAAAGACTTGGGTGTGGAAGCCAAGATTCCCCTGAACCTAGATGGCCCTCACCCG       c.3420
 L  G  K  D  L  G  V  E  A  K  I  P  L  N  L  D  G  P  H  P         p.1140

          .         .         .         .         .         .       g.53384
 TCTCCCCCGACCCCGGACAGTGTTGGACAGCTACATATCATGGACTACAATGAGACTCAT       c.3480
 S  P  P  T  P  D  S  V  G  Q  L  H  I  M  D  Y  N  E  T  H         p.1160

          .                                                         g.53399
 CATGAACACAGCTAA                                                    c.3495
 H  E  H  S  X                                                      p.1164

          .         .         .         .         .         .       g.53459
 ggaatgatggtcaatcagtgttaacttgcatattgttggcacagaacaggaggtgtgaat       c.*60

          .         .         .         .         .         .       g.53519
 gcacgtttcaaagctttcctgtttccagggtctgagtgcaagttcatgtgtggaaatggg       c.*120

          .         .         .         .         .         .       g.53579
 acggaggtcctttggacagctgactgaatgcagaacggtttttggatctggcattgaaat       c.*180

          .         .         .         .         .         .       g.53639
 gcctcttgaccttcccctccacccgccctaaccccctctcatttacctcgcagtgtgttc       c.*240

          .         .         .         .         .         .       g.53699
 taatccaagggccagttggtgttcctcagtagctttactttcttcctttcccccccaaat       c.*300

          .         .         .         .         .         .       g.53759
 ggttgcgtcctttgaacctgtgcaatatgaggccaaatttaatctttgagtctaacacac       c.*360

          .         .         .         .         .         .       g.53819
 cactttctgctttcccgaagttcagataactgggttggctctcaattagaccaggtagtt       c.*420

          .         .         .         .         .         .       g.53879
 tgttgcattgcaggtaagtctggttttgtcccttccaggaggacatagcctgcaaagctg       c.*480

          .         .         .         .         .         .       g.53939
 gttgtctttacatgaaagcgtttacatgagactttccgactgcttttttgattctgaagt       c.*540

          .         .         .         .         .         .       g.53999
 tcagcatctaaagcagcaggtctagaagaacaacggtttattcatacttgcattcttttg       c.*600

          .         .         .         .         .         .       g.54059
 gcagttctgataagcttcctagaaagttctgtgtaaacagaagcctgtttcagaaatctg       c.*660

          .         .         .         .         .         .       g.54119
 gagctggcactgtggagaccacacaccctttgggaaagctcttgtctcttcttcccccac       c.*720

          .         .         .         .         .         .       g.54179
 tacctcttatttatttggtgtttgcttgaatgctggtactattgtgaccacaggctggtg       c.*780

          .         .         .         .         .         .       g.54239
 tgtaggtggtaaaacctgttctccataggagggaaggagcagtcactgggagaggttacc       c.*840

          .         .         .         .         .         .       g.54299
 cgagaagcacttgagcatgaggaactgcacctttaggccatctcagcttgctgggccttt       c.*900

          .         .         .         .         .         .       g.54359
 tgttaaacccttctgtctactggcctccctttgtgtgcatacgcctcttgttcatgtcag       c.*960

          .         .         .         .         .         .       g.54419
 cttatatgtgacactgcagcagaaaggctctgaaggtccaaagagtttctgcaaagtgta       c.*1020

          .         .         .         .         .         .       g.54479
 tgtgaccatcatttcccaggccattagggttgcctcactgtagcaggttctaggctacca       c.*1080

          .         .         .         .         .         .       g.54539
 gaagaggggcagctttttcataccaattccaactttcaggggctgactctccagggagct       c.*1140

          .         .         .         .         .         .       g.54599
 gatgtcatcacactctccatgttagtaatggcagagcagtctaaacagagtccgggagaa       c.*1200

          .         .         .         .         .         .       g.54659
 tgctggcaaaggctggctgtgtatacccactaggctgccccacgtgctcccgagagatga       c.*1260

          .         .         .         .         .         .       g.54719
 cactagtcagaaaattggcagtggcagagaatccaaactcaacaagtgctcctgaaagaa       c.*1320

          .         .         .         .         .         .       g.54779
 acgctagaagcctaagaactgtggtctggtgttccagctgaggcagggggatttggtagg       c.*1380

          .         .         .         .         .         .       g.54839
 aaggagccagtgaacttggctttcctgtttctatctttcattaaaaagaatagaaggatt       c.*1440

          .         .         .         .         .         .       g.54899
 cagtcataaagaggtaaaaaactgtcacggtacgaaatcttagtgcccacggaggcctcg       c.*1500

          .         .         .         .         .         .       g.54959
 agcagagagaatgaaagtcttttttttttttttttttttttagcatggcaataaatattc       c.*1560

          .         .         .         .         .         .       g.55019
 tagcatccctaactaaaggggactagacagttagagactctgtcaccctagctataccag       c.*1620

          .         .         .         .         .         .       g.55079
 cagaaaacctgttcaggcaggctttctgggtgtgactgattcccagcctgtggcagggcg       c.*1680

          .         .         .         .         .         .       g.55139
 tggtcccaactactcagcctagcacaggctggcagttggtactgaattgtcagatgtgga       c.*1740

          .         .         .         .         .         .       g.55199
 gtattagtgacaccacacatttaattcagctttgtccaaaggaaagcttaaaacccaata       c.*1800

          .         .         .         .         .         .       g.55259
 cagtctagtttcctggttccgttttagaaaaggaaaacgtgaacaaacttagaaagggaa       c.*1860

          .         .         .         .         .         .       g.55319
 ggaaatcccatcagtgaatcctgaaactggttttaagtgctttccttctcctcatgccca       c.*1920

          .         .         .         .         .         .       g.55379
 agagatctgtgccatagaacaagataccaggcacttaaagccttttcctgaattggaaag       c.*1980

          .         .         .         .         .         .       g.55439
 gaaaagaggcccaagtgcaaaagaaaaaacattttagaaacggacagcttataaaaataa       c.*2040

          .         .         .         .         .         .       g.55499
 agggaagaaaggaggcagcatggagagaggcctgtgctagaagctccatggacgtgtctg       c.*2100

          .         .         .         .         .         .       g.55559
 cacagggtcctcagctcatccatgcggcctgggtgtccttttactcagctttataacaaa       c.*2160

          .         .         .         .         .         .       g.55619
 tgtggctccaagctcaggtgcctttgagttctaggaggctgtgggttttattcaactacg       c.*2220

          .         .         .         .         .         .       g.55679
 gttgggagaatgagacctggagtcatgttgaaggtgcccaacctaaaaatgtaggctttc       c.*2280

          .         .         .         .         .         .       g.55739
 atgttgcaaagaactccagagtcagtagttaggtttggtttggttttggacatgataaac       c.*2340

          .         .         .         .         .         .       g.55799
 ctgccaagagtcaacaggtcacttgatcatgctgcagtgggtagttctaaggatggaaag       c.*2400

          .         .         .         .         .         .       g.55859
 gtgacagtattactctcgagaggcaattcagtcctgggcaaaggtattagtacaataagc       c.*2460

          .         .         .         .         .         .       g.55919
 gttaagggcagagtctaccttgaaaccaattaagcagcttggtattcataaatattggga       c.*2520

          .         .         .         .         .         .       g.55979
 ttggatggcctccatccagaaatcactatgggtgagcatacctgtctcagctgtttggcc       c.*2580

          .         .         .         .         .         .       g.56039
 aatgtgcataacctactcggatccccacctgacactaaccagagtcagcacaggccccga       c.*2640

          .         .         .         .         .         .       g.56099
 ggagcccgaagtctgctgctgtgcagcatggaattcctttaaaaaggtgcactacagttt       c.*2700

          .         .         .         .         .         .       g.56159
 tagcggggagggggataggaagacgcagagcaaatgagctccggagtccctgcaggtgaa       c.*2760

          .         .         .         .         .         .       g.56219
 taaacacacagatctgcatctgatagaactttgatggattttcaaaaagccgttgacaag       c.*2820

          .         .         .         .         .         .       g.56279
 gctctgctatacagtctataaaaattgttattatgggattggaagaaacacgtggtcatg       c.*2880

          .         .         .         .         .         .       g.56339
 aatagaaaaaaaacaaacccaaaggtaggaaggtcaaggtcatttcttagatggagaagt       c.*2940

          .         .         .         .         .         .       g.56399
 tgtgaaagatgtccttggagatgagttttaggaccagcattactaaggcaggtgggcaga       c.*3000

          .         .         .         .         .         .       g.56459
 cagtgacctctctaggtgtgtccacagagtttttcaggagagaaaactgcctgacctttg       c.*3060

          .         .         .         .         .         .       g.56519
 ggactaagctgcggaatcttcttactaagcttgaagagtggagaggcgagaggtgagcta       c.*3120

          .         .         .         .         .         .       g.56579
 ctttgtgagccaaagcttatgtgacatggttggggaaacagtccaaactgttctgagaag       c.*3180

          .         .         .         .         .         .       g.56639
 gtgaactgttacgacccaggacaattagaaaaattcacccaccatgccgcacattactgg       c.*3240

          .         .         .         .         .         .       g.56699
 gtaaaagcagggcagcagggaacaaaactccagactcttgggccgtccccatttgcaaca       c.*3300

          .         .         .         .         .         .       g.56759
 gcacacatagtttctggtatatttgttgggaaagataaaactctagcagttgttgagggg       c.*3360

          .         .         .         .         .         .       g.56819
 aggatgtataaaatggtcatggggatgaaaggatctctgagaccacagaggctcagactc       c.*3420

          .         .         .         .         .         .       g.56879
 actgttaagaatagaaaactgggtatgcgtttcatgtagccagcagaactgaagtgtgct       c.*3480

          .         .         .         .         .         .       g.56939
 gtgacaagccaatgtgaatttctaccaaatagtagagcataccacttgaagaaggaaaga       c.*3540

          .         .         .         .         .         .       g.56999
 accgaagagcaaacaaaagttctgcgtaatgagactcaccttttctcgctgaaagcacta       c.*3600

          .         .         .         .         .         .       g.57059
 agaggtgggaggaggcctgcacaggctggaggagggtttgggcagagcgaagacccggcc       c.*3660

          .         .         .         .         .         .       g.57119
 aggaccttggtgagatggggtgccgcccacctcctgcggatactcttggagagttgttcc       c.*3720

          .         .         .         .         .         .       g.57179
 cccagggggctctgccccacctggagaaggaagctgcctggtgtggagtgactcaaatca       c.*3780

          .         .         .         .         .         .       g.57239
 gtatacctatctgctgcaccttcactctccagggtacatgctttaaaaccgacccgcaac       c.*3840

          .         .         .         .         .         .       g.57299
 aagtattggaaaaatgtatccagtctgaagatgtttgtgtatctgtttacatccagagtt       c.*3900

          .         .         .         .         .         .       g.57359
 ctgtgacacatgccccccagattgctgcaaagatcccaaggcattgattgcacttgatta       c.*3960

          .         .         .         .         .         .       g.57419
 agcttttgtctgtaggtgaaagaacaagtttaggtcgaggactggcccctaggctgctgc       c.*4020

          .         .         .         .         .         .       g.57479
 tgtgacccttgtcccatgtggcttgtttgcctgtccgggactcttcgatgtgcccagggg       c.*4080

          .         .         .         .         .         .       g.57539
 agcgtgttcctgtctcttccatgccgtcctgcagtccttatctgctcgcctgagggaaga       c.*4140

          .         .         .         .         .         .       g.57599
 gtagctgtagctacaagggaagcctgcctggaagagccgagcacctgtgcccatggcttc       c.*4200

          .         .         .         .         .         .       g.57659
 tggtcatgaaacgagttaatgatggcagaggagcttcctccccacttcgcagcgccacat       c.*4260

          .         .         .         .         .         .       g.57719
 tatccatcctctgagataagtaggctggtttaaccattggaatggacctttcagtggaaa       c.*4320

          .         .         .         .         .         .       g.57779
 ccctgagagtctgagaacccccagaccaacccttccctccctttccccacctcttacagt       c.*4380

          .         .         .         .         .         .       g.57839
 gtttggacaggagggtatggtgctgctctgtgtagcaagtactttggcttatgaaagagg       c.*4440

          .         .         .         .         .         .       g.57899
 cagccacgcattttgcactaggaagaatcagtaatcacttttcagaagacttctatggac       c.*4500

          .         .         .         .         .         .       g.57959
 cacaaatatattacggaggaacagattttgctaagacataatctagttttataactcaat       c.*4560

          .         .         .         .         .         .       g.58019
 catgaatgaaccatgtgtggcaaacttgcagtttaaaggggtcccatcagtgaaagaaac       c.*4620

          .         .         .         .         .         .       g.58079
 tgattttttttaacggactgcttttagttaaattgaagaaagtcagctcttgtcaaaagg       c.*4680

          .         .         .         .         .         .       g.58139
 tctaaactttcccgcctcaatcctaaaagcatgtcaacaatccacatcagatgccataaa       c.*4740

          .         .         .         .         .         .       g.58199
 tatgaactgcaggataaaatggtacaatcttagtgaatgggaattggaatcaaaagagtt       c.*4800

          .         .         .         .         .         .       g.58259
 tgctgtccttcttagaatgttctaaaatgtcaaggcagttgcttgtgtttaactgtgaac       c.*4860

          .         .                                               g.58286
 aaataaaaatttattgttttgcactac                                        c.*4887

 (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 Tuberous sclerosis 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 07
©2004-2013 Leiden University Medical Center