SH3 and multiple ankyrin repeat domains 3 (SHANK3) - coding DNA reference sequence

(used for variant description)

(last modified September 2, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_033517.1 in the SHANK3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008607.2, covering SHANK3 transcript NM_033517.1.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
          .         .         .         .         .         .       g.60
 ATGGACGGCCCCGGGGCCAGCGCCGTGGTCGTGCGCGTCGGCATCCCGGACCTGCAGCAG       c.60
 M  D  G  P  G  A  S  A  V  V  V  R  V  G  I  P  D  L  Q  Q         p.20

     | 02    .         .         .         .         .         .    g.463
 ACG | AAGTGCCTGCGCCTGGACCCGGCCGCGCCCGTGTGGGCCGCCAAGCAGCGCGTGCTC    c.120
 T   | K  C  L  R  L  D  P  A  A  P  V  W  A  A  K  Q  R  V  L      p.40

          .         .         .         .         .         .       g.523
 TGCGCCCTCAACCACAGCCTCCAGGACGCGCTCAACTATGGGCTTTTCCAGCCGCCCTCC       c.180
 C  A  L  N  H  S  L  Q  D  A  L  N  Y  G  L  F  Q  P  P  S         p.60

          .         .         .         .         .         .       g.583
 CGGGGCCGCGCCGGCAAGTTCCTGGATGAGGAGCGGCTCCTGCAGGAGTACCCGCCCAAC       c.240
 R  G  R  A  G  K  F  L  D  E  E  R  L  L  Q  E  Y  P  P  N         p.80

          .         .        | 03.         .         .         .    g.2013
 CTGGACACGCCCCTGCCCTACCTGGAG | TTTCGATACAAGCGGCGAGTTTATGCCCAGAAC    c.300
 L  D  T  P  L  P  Y  L  E   | F  R  Y  K  R  R  V  Y  A  Q  N      p.100

          .         .         .          | 04        .         .    g.3964
 CTCATCGATGATAAGCAGTTTGCAAAGCTTCACACAAAG | GCGAACCTGAAGAAGTTCATG    c.360
 L  I  D  D  K  Q  F  A  K  L  H  T  K   | A  N  L  K  K  F  M      p.120

          .         .         .         .         .         .       g.4024
 GACTACGTCCAGCTGCATAGCACGGACAAGGTGGCACGCCTGTTGGACAAGGGGCTGGAC       c.420
 D  Y  V  Q  L  H  S  T  D  K  V  A  R  L  L  D  K  G  L  D         p.140

          .         .         | 05         .         .         .    g.4159
 CCCAACTTCCATGACCCTGACTCAGGAG | AGTGCCCCCTGAGCCTCGCAGCCCAGCTGGAC    c.480
 P  N  F  H  D  P  D  S  G  E |   C  P  L  S  L  A  A  Q  L  D      p.160

          .         .         .         .         .         .       g.4219
 AACGCCACGGACCTGCTAAAGGTGCTGAAGAATGGTGGTGCCCACCTGGACTTCCGCACT       c.540
 N  A  T  D  L  L  K  V  L  K  N  G  G  A  H  L  D  F  R  T         p.180

          .         .         .         .         .         .       g.4279
 CGCGATGGGCTCACTGCCGTGCACTGTGCCACACGCCAGCGGAATGCGGCAGCACTGACG       c.600
 R  D  G  L  T  A  V  H  C  A  T  R  Q  R  N  A  A  A  L  T         p.200

  | 06       .         .         .         .         .         .    g.4437
  | ACCCTGCTGGACCTGGGGGCTTCACCTGACTACAAGGACAGCCGCGGCTTGACACCCCTC    c.660
  | T  L  L  D  L  G  A  S  P  D  Y  K  D  S  R  G  L  T  P  L      p.220

          .         .         .         .         .         .       g.4497
 TACCACAGCGCCCTGGGGGGTGGGGATGCCCTCTGCTGTGAGCTGCTTCTCCACGACCAC       c.720
 Y  H  S  A  L  G  G  G  D  A  L  C  C  E  L  L  L  H  D  H         p.240

          .         .         .         .         | 07         .    g.4682
 GCTCAGCTGGGGATCACCGACGAGAATGGCTGGCAGGAGATCCACCAG | GCCTGCCGCTTT    c.780
 A  Q  L  G  I  T  D  E  N  G  W  Q  E  I  H  Q   | A  C  R  F      p.260

          .         .         .         .         .         .       g.4742
 GGGCACGTGCAGCATCTGGAGCACCTGCTGTTCTATGGGGCAGACATGGGGGCCCAGAAC       c.840
 G  H  V  Q  H  L  E  H  L  L  F  Y  G  A  D  M  G  A  Q  N         p.280

          .         .         .         .      | 08  .         .    g.8713
 GCCTCGGGGAACACAGCCCTGCACATCTGTGCCCTCTACAACCAG | GAGAGCTGTGCTCGT    c.900
 A  S  G  N  T  A  L  H  I  C  A  L  Y  N  Q   | E  S  C  A  R      p.300

          .         .         .         .         .         .       g.8773
 GTCCTGCTCTTCCGTGGAGCTAACAGGGATGTCCGCAACTACAACAGCCAGACAGCCTTC       c.960
 V  L  L  F  R  G  A  N  R  D  V  R  N  Y  N  S  Q  T  A  F         p.320

     | 09    .         .         .         .         .         .    g.10000
 CAG | GTGGCCATCATCGCAGGGAACTTTGAGCTTGCAGAGGTTATCAAGACCCACAAAGAC    c.1020
 Q   | V  A  I  I  A  G  N  F  E  L  A  E  V  I  K  T  H  K  D      p.340

          . | 10       .         .         .         .         .    g.20183
 TCGGATGTTG | TACCATTCAGGGAAACCCCCAGCTATGCGAAGCGGCGGCGACTGGCTGGC    c.1080
 S  D  V  V |   P  F  R  E  T  P  S  Y  A  K  R  R  R  L  A  G      p.360

          .         .         .         .         .         .       g.20243
 CCCAGTGGCTTGGCATCCCCTCGGCCTCTGCAGCGCTCAGCCAGCGATATCAACCTGAAG       c.1140
 P  S  G  L  A  S  P  R  P  L  Q  R  S  A  S  D  I  N  L  K         p.380

          .         .         .         .         .         .       g.20303
 GGGGAGGCACAGCCAGCAGCTTCTCCTGGACCCTCGCTGAGAAGCCTCCCCCACCAGCTG       c.1200
 G  E  A  Q  P  A  A  S  P  G  P  S  L  R  S  L  P  H  Q  L         p.400

          .         .         .         .         .         .       g.20363
 CTGCTCCAGCGGCTGCAAGAGGAGAAAGATCGTGACCGGGATGCCGACCAGGAGAGCAAC       c.1260
 L  L  Q  R  L  Q  E  E  K  D  R  D  R  D  A  D  Q  E  S  N         p.420

          .         .         .         .     | 11   .         .    g.23183
 ATCAGTGGCCCTTTAGCAGGCAGGGCCGGCCAAAGCAAGATCAG | CCCGAGCGGGCCCGGC    c.1320
 I  S  G  P  L  A  G  R  A  G  Q  S  K  I  S  |  P  S  G  P  G      p.440

          .         .         .         .         .         .       g.23243
 GGCCCCGGCCCCGCGCCCGGCCCCGGCCCCGCGCCCCCTGCGCCCCCCGCACCGCCGCCC       c.1380
 G  P  G  P  A  P  G  P  G  P  A  P  P  A  P  P  A  P  P  P         p.460

          .         .         .         .         .         .       g.23303
 CGGGGCCCGAAGCGGAAACTTTACAGCGCCGTCCCCGGCCGCAAGTTCATCGCCGTGAAG       c.1440
 R  G  P  K  R  K  L  Y  S  A  V  P  G  R  K  F  I  A  V  K         p.480

          .         .         .         .         .         | 12    g.24337
 GCGCACAGCCCGCAGGGTGAAGGCGAGATCCCGCTGCACCGCGGCGAGGCCGTGAAGG | TG    c.1500
 A  H  S  P  Q  G  E  G  E  I  P  L  H  R  G  E  A  V  K  V |       p.500

          .         .         .         .         .         .       g.24397
 CTCAGCATTGGGGAGGGCGGTTTCTGGGAGGGAACCGTGAAAGGCCGCACGGGCTGGTTC       c.1560
 L  S  I  G  E  G  G  F  W  E  G  T  V  K  G  R  T  G  W  F         p.520

          .         .         .         .         .   | 13     .    g.29513
 CCGGCCGACTGCGTGGAGGAAGTGCAGATGAGGCAGCATGACACACGGCCTG | AAACGCGG    c.1620
 P  A  D  C  V  E  E  V  Q  M  R  Q  H  D  T  R  P  E |   T  R      p.540

          .         .         .         .         .         .       g.29573
 GAGGACCGGACGAAGCGGCTCTTTCGGCACTACACAGTGGGCTCCTACGACAGCCTCACC       c.1680
 E  D  R  T  K  R  L  F  R  H  Y  T  V  G  S  Y  D  S  L  T         p.560

          | 14         .         .         .         .         .    g.29863
 TCACACAG | CGATTATGTCATTGATGACAAAGTGGCTGTCCTGCAGAAACGGGACCACGAG    c.1740
 S  H  S  |  D  Y  V  I  D  D  K  V  A  V  L  Q  K  R  D  H  E      p.580

          .         .         .  | 15      .         .         .    g.30412
 GGCTTTGGTTTTGTGCTCCGGGGAGCCAAAG | CAGAGACCCCCATCGAGGAGTTCACGCCC    c.1800
 G  F  G  F  V  L  R  G  A  K  A |   E  T  P  I  E  E  F  T  P      p.600

          .         .         .         .         .         .       g.30472
 ACGCCAGCCTTCCCGGCGCTGCAGTATCTCGAGTCGGTGGACGTGGAGGGTGTGGCCTGG       c.1860
 T  P  A  F  P  A  L  Q  Y  L  E  S  V  D  V  E  G  V  A  W         p.620

          .         .         .       | 16 .         .         .    g.30633
 AGGGCCGGGCTGCGCACGGGAGACTTCCTCATCGAG | GTGAACGGGGTGAACGTGGTGAAG    c.1920
 R  A  G  L  R  T  G  D  F  L  I  E   | V  N  G  V  N  V  V  K      p.640

          .         .         .         .         .         .       g.30693
 GTCGGACACAAGCAGGTGGTGGCTCTGATTCGCCAGGGTGGCAACCGCCTCGTCATGAAG       c.1980
 V  G  H  K  Q  V  V  A  L  I  R  Q  G  G  N  R  L  V  M  K         p.660

          .         .         .         .          | 17        .    g.31728
 GTTGTGTCTGTGACAAGGAAGCCAGAAGAGGACGGGGCTCGGCGCAGAG | CCCCACCGCCC    c.2040
 V  V  S  V  T  R  K  P  E  E  D  G  A  R  R  R  A |   P  P  P      p.680

          .         .         .         .         .         .       g.31788
 CCCAAGAGGGCCCCCAGCACCACACTGACCCTGCGCTCCAAGTCCATGACAGCTGAGCTC       c.2100
 P  K  R  A  P  S  T  T  L  T  L  R  S  K  S  M  T  A  E  L         p.700

          . | 18       .         .     | 19   .         .         . g.40588
 GAGGAACTTG | CCTCCATTCGGAGAAGAAAAGGGG | AGAAGCTGGACGAGATGCTGGCAGCC c.2160
 E  E  L  A |   S  I  R  R  R  K  G  E |   K  L  D  E  M  L  A  A   p.720

          .         .         .         .         .         .       g.40648
 GCCGCAGAGCCAACGCTGCGGCCAGACATCGCAGACGCAGACTCCAGAGCCGCCACCGTC       c.2220
 A  A  E  P  T  L  R  P  D  I  A  D  A  D  S  R  A  A  T  V         p.740

          .         .         .         .      | 20  .         .    g.41329
 AAACAGAGGCCCACCAGTCGGAGGATCACACCCGCCGAGATTAGC | TCATTGTTTGAACGC    c.2280
 K  Q  R  P  T  S  R  R  I  T  P  A  E  I  S   | S  L  F  E  R      p.760

          .         .         .         .         .         .       g.41389
 CAGGGCCTCCCAGGCCCAGAGAAGCTGCCGGGCTCCTTGCGGAAGGGGATTCCACGGACC       c.2340
 Q  G  L  P  G  P  E  K  L  P  G  S  L  R  K  G  I  P  R  T         p.780

          . | 21       .         .         .         .         .    g.45879
 AAGTCTGTAG | GGGAGGACGAGAAGCTGGCGTCCCTGCTGGAAGGGCGCTTCCCGCGGAGC    c.2400
 K  S  V  G |   E  D  E  K  L  A  S  L  L  E  G  R  F  P  R  S      p.800

          .         .         .         .         .         .       g.45939
 ACCTCGATGCAAGACCCGGTGCGCGAGGGTCGCGGCATCCCGCCCCCGCCGCAGACCGCG       c.2460
 T  S  M  Q  D  P  V  R  E  G  R  G  I  P  P  P  P  Q  T  A         p.820

          .         .         .         .         .         .       g.45999
 CCGCCTCCCCCGCCCGCGCCCTACTACTTCGACTCGGGGCCGCCCCCGGCCTTCTCGCCG       c.2520
 P  P  P  P  P  A  P  Y  Y  F  D  S  G  P  P  P  A  F  S  P         p.840

          .         .         .         .         .         .       g.46059
 CCGCCCCCGCCGGGCCGCGCCTACGACACGGTGCGCTCCAGCTTCAAGCCCGGCCTGGAG       c.2580
 P  P  P  P  G  R  A  Y  D  T  V  R  S  S  F  K  P  G  L  E         p.860

          .         .         .         .         .         .       g.46119
 GCGCGCCTGGGCGCGGGCGCTGCCGGCCTGTACGAGCCGGGCGCGGCCCTCGGCCCGCTG       c.2640
 A  R  L  G  A  G  A  A  G  L  Y  E  P  G  A  A  L  G  P  L         p.880

          .         .         .         .         .         .       g.46179
 CCGTATCCCGAGCGGCAGAAGCGCGCGCGCTCCATGATCATCCTGCAGGACTCGGCGCCC       c.2700
 P  Y  P  E  R  Q  K  R  A  R  S  M  I  I  L  Q  D  S  A  P         p.900

          .         .         .         .         .         .       g.46239
 GAGTCGGGCGACGCCCCTCGACCCCCGCCCGCGGCCACCCCGCCCGAGCGACCCAAGCGC       c.2760
 E  S  G  D  A  P  R  P  P  P  A  A  T  P  P  E  R  P  K  R         p.920

          .         .         .         .         .         .       g.46299
 CGGCCGCGGCCGCCCGGCCCCGACAGCCCCTACGCCAACCTGGGCGCCTTCAGCGCCAGC       c.2820
 R  P  R  P  P  G  P  D  S  P  Y  A  N  L  G  A  F  S  A  S         p.940

          .         .         .         .         .         .       g.46359
 CTCTTCGCTCCGTCCAAGCCGCAGCGCCGCAAGAGCCCCCTGGTGAAGCAGCTGCAGGTG       c.2880
 L  F  A  P  S  K  P  Q  R  R  K  S  P  L  V  K  Q  L  Q  V         p.960

          .         .         .         .         .         .       g.46419
 GAGGACGCGCAGGAGCGCGCGGCCCTGGCCGTGGGCAGCCCCGGTCCCGGCGGCGGCAGC       c.2940
 E  D  A  Q  E  R  A  A  L  A  V  G  S  P  G  P  G  G  G  S         p.980

          .         .         .         .         .         .       g.46479
 TTCGCCCGCGAGCCCTCCCCGACCCACCGCGGTCCGCGCCCGGGTGGCCTCGACTACGGC       c.3000
 F  A  R  E  P  S  P  T  H  R  G  P  R  P  G  G  L  D  Y  G         p.1000

          .         .         .         .         .         .       g.46539
 GCGGGCGATGGCCCGGGGCTCGCGTTCGGCGGCCCGGGCCCGGCCAAGGACCGGCGGCTG       c.3060
 A  G  D  G  P  G  L  A  F  G  G  P  G  P  A  K  D  R  R  L         p.1020

          .         .         .         .         .         .       g.46599
 GAGGAGCGGCGCCGCTCCACTGTGTTCCTGTCCGTGGGGGCCATCGAGGGCAGCGCCCCC       c.3120
 E  E  R  R  R  S  T  V  F  L  S  V  G  A  I  E  G  S  A  P         p.1040

          .         .         .         .         .         .       g.46659
 GGCGCGGATCTGCCATCCCTACAGCCCTCCCGCTCCATCGACGAGCGCCTCCTGGGGACC       c.3180
 G  A  D  L  P  S  L  Q  P  S  R  S  I  D  E  R  L  L  G  T         p.1060

          .         .         .         .         .         .       g.46719
 GGCCCCACCGCCGGCCGCGACCTGCTGCTGCCCTCCCCGGTGTCTGCCCTGAAGCCGTTG       c.3240
 G  P  T  A  G  R  D  L  L  L  P  S  P  V  S  A  L  K  P  L         p.1080

          .         .         .         .         .         .       g.46779
 GTCAGCGGCCCGAGCCTGGGGCCCTCGGGTTCCACCTTCATCCACCCACTCACCGGCAAA       c.3300
 V  S  G  P  S  L  G  P  S  G  S  T  F  I  H  P  L  T  G  K         p.1100

          .         .         .         .         .         .       g.46839
 CCCCTGGACCCCAGCTCACCCCTGGCCCTTGCCCTGGCTGCCCGAGAGCGAGCTCTGGCC       c.3360
 P  L  D  P  S  S  P  L  A  L  A  L  A  A  R  E  R  A  L  A         p.1120

          .         .         .         .         .         .       g.46899
 TCCCAGGCGCCCTCCCGGTCCCCCACACCCGTGCACAGTCCCGACGCCGACCGCCCCGGA       c.3420
 S  Q  A  P  S  R  S  P  T  P  V  H  S  P  D  A  D  R  P  G         p.1140

          .         .         .         .         .         .       g.46959
 CCCCTGTTTGTGGATGTACAGGCCCGGGACCCAGAGCGAGGGTCCCTGGCTTCCCCGGCT       c.3480
 P  L  F  V  D  V  Q  A  R  D  P  E  R  G  S  L  A  S  P  A         p.1160

          .         .         .         .         .         .       g.47019
 TTCTCCCCACGGAGCCCAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTC       c.3540
 F  S  P  R  S  P  A  W  I  P  V  P  A  R  R  E  A  E  K  V         p.1180

          .         .         .         .         .         .       g.47079
 CCCCGGGAGGAGCGGAAGTCACCCGAGGACAAGAAGTCCATGATCCTCAGCGTCCTGGAC       c.3600
 P  R  E  E  R  K  S  P  E  D  K  K  S  M  I  L  S  V  L  D         p.1200

          .         .         .         .         .         .       g.47139
 ACATCCCTGCAGCGGCCAGCTGGCCTCATCGTTGTGCACGCCACCAGCAACGGGCAGGAG       c.3660
 T  S  L  Q  R  P  A  G  L  I  V  V  H  A  T  S  N  G  Q  E         p.1220

          .         .         .         .         .         .       g.47199
 CCCAGCAGGCTGGGGGGGGCCGAAGAGGAGCGCCCGGGCACCCCGGAGTTGGCCCCGGCC       c.3720
 P  S  R  L  G  G  A  E  E  E  R  P  G  T  P  E  L  A  P  A         p.1240

          .         .         .         .         .         .       g.47259
 CCCATGCAGTCAGCGGCTGTGGCAGAGCCCCTGCCCAGCCCCCGGGCCCAGCCCCCTGGT       c.3780
 P  M  Q  S  A  A  V  A  E  P  L  P  S  P  R  A  Q  P  P  G         p.1260

          .         .         .         .         .         .       g.47319
 GGCACCCCGGCAGACGCCGGGCCAGGCCAGGGCAGCTCAGAGGAAGAGCCAGAGCTGGTG       c.3840
 G  T  P  A  D  A  G  P  G  Q  G  S  S  E  E  E  P  E  L  V         p.1280

          .         .         .         .         .         .       g.47379
 TTTGCTGTGAACCTGCCACCTGCCCAGCTGTCGTCCAGCGATGAGGAGACCAGGGAGGAG       c.3900
 F  A  V  N  L  P  P  A  Q  L  S  S  S  D  E  E  T  R  E  E         p.1300

          .         .         .         .         .         .       g.47439
 CTGGCCCGAATTGGGTTGGTGCCACCCCCTGAAGAGTTTGCCAACGGGGTCCTGCTGGCC       c.3960
 L  A  R  I  G  L  V  P  P  P  E  E  F  A  N  G  V  L  L  A         p.1320

          .         .         .         .         .         .       g.47499
 ACCCCACTCGCTGGCCCGGGCCCCTCGCCCACCACGGTGCCCAGCCCGGCCTCAGGGAAG       c.4020
 T  P  L  A  G  P  G  P  S  P  T  T  V  P  S  P  A  S  G  K         p.1340

          .         .         .         .         .         .       g.47559
 CCCAGCAGTGAGCCACCCCCTGCCCCTGAGTCTGCAGCCGACTCTGGGGTGGAGGAGGCT       c.4080
 P  S  S  E  P  P  P  A  P  E  S  A  A  D  S  G  V  E  E  A         p.1360

          .         .         .         .         .         .       g.47619
 GACACACGCAGCTCCAGCGACCCCCACCTGGAGACCACAAGCACCATCTCCACGGTGTCC       c.4140
 D  T  R  S  S  S  D  P  H  L  E  T  T  S  T  I  S  T  V  S         p.1380

          .         .         .         .         .         .       g.47679
 AGCATGTCCACCTTGAGCTCGGAGAGCGGGGAACTCACTGACACCCACACCTCCTTCGCT       c.4200
 S  M  S  T  L  S  S  E  S  G  E  L  T  D  T  H  T  S  F  A         p.1400

          .         .         .         .         .         .       g.47739
 GACGGACACACTTTTCTACTCGAGAAGCCACCAGTGCCTCCCAAGCCCAAGCTCAAGTCC       c.4260
 D  G  H  T  F  L  L  E  K  P  P  V  P  P  K  P  K  L  K  S         p.1420

          .         .         .         .         .         .       g.47799
 CCGCTGGGGAAGGGGCCGGTGACCTTCAGGGACCCGCTGCTGAAGCAGTCCTCGGACAGC       c.4320
 P  L  G  K  G  P  V  T  F  R  D  P  L  L  K  Q  S  S  D  S         p.1440

          .         .         .         .         .         .       g.47859
 GAGCTCATGGCCCAGCAGCACCACGCCGCCTCTGCCGGGCTGGCCTCTGCCGCCGGGCCT       c.4380
 E  L  M  A  Q  Q  H  H  A  A  S  A  G  L  A  S  A  A  G  P         p.1460

          .         .         .         .         .         .       g.47919
 GCCCGCCCTCGCTACCTCTTCCAGAGAAGGTCCAAGCTATGGGGGGACCCCGTGGAGAGC       c.4440
 A  R  P  R  Y  L  F  Q  R  R  S  K  L  W  G  D  P  V  E  S         p.1480

          .         .         .         .         .         .       g.47979
 CGGGGGCTCCCTGGGCCTGAAGACGACAAACCAACTGTGATCAGTGAGCTCAGCTCCCGC       c.4500
 R  G  L  P  G  P  E  D  D  K  P  T  V  I  S  E  L  S  S  R         p.1500

          .         .         .         .         .         .       g.48039
 CTGCAGCAGCTGAACAAGGACACGCGTTCCCTGGGGGAGGAACCAGTTGGTGGCCTGGGC       c.4560
 L  Q  Q  L  N  K  D  T  R  S  L  G  E  E  P  V  G  G  L  G         p.1520

          .         .         .         .     | 22   .         .    g.56382
 AGCCTGCTGGACCCTGCCAAGAAGTCGCCCATCGCAGCAGCTCG | GCTCTTCAGCAGCCTC    c.4620
 S  L  L  D  P  A  K  K  S  P  I  A  A  A  R  |  L  F  S  S  L      p.1540

          .         .         .         .         .         .       g.56442
 GGTGAGCTGAGCTCCATTTCAGCGCAGCGCAGCCCCGGGGGCCCGGGCGGCGGGGCCTCG       c.4680
 G  E  L  S  S  I  S  A  Q  R  S  P  G  G  P  G  G  G  A  S         p.1560

          .         .         .         .         .         .       g.56502
 TACTCGGTGAGGCCCAGTGGCCGCTACCCCGTGGCGAGACGCGCCCCGAGCCCGGTGAAG       c.4740
 Y  S  V  R  P  S  G  R  Y  P  V  A  R  R  A  P  S  P  V  K         p.1580

          .         .         .         .         .         .       g.56562
 CCCGCGTCGCTGGAGCGGGTGGAGGGGCTGGGGGCGGGCGCGGGGGGCGCAGGGCGGCCC       c.4800
 P  A  S  L  E  R  V  E  G  L  G  A  G  A  G  G  A  G  R  P         p.1600

          .         .         .         .         .         .       g.56622
 TTCGGCCTCACGCCCCCCACCATCCTCAAGTCGTCCAGCCTCTCCATCCCGCACGAGCCC       c.4860
 F  G  L  T  P  P  T  I  L  K  S  S  S  L  S  I  P  H  E  P         p.1620

          .         .         .         .         .         .       g.56682
 AAGGAGGTGCGCTTCGTGGTGCGCAGCGTGAGCGCGCGCAGTCGCTCCCCCTCGCCGTCG       c.4920
 K  E  V  R  F  V  V  R  S  V  S  A  R  S  R  S  P  S  P  S         p.1640

          .         .         .         .         .         .       g.56742
 CCGCTGCCCTCGCCCGCGTCCGGCCCCGGCCCCGGCGCCCCCGGCCCACGCCGACCCTTC       c.4980
 P  L  P  S  P  A  S  G  P  G  P  G  A  P  G  P  R  R  P  F         p.1660

          .         .         .         .         .         .       g.56802
 CAGCAGAAGCCGCTGCAGCTCTGGAGCAAGTTCGACGTGGGCGACTGGCTGGAGAGCATC       c.5040
 Q  Q  K  P  L  Q  L  W  S  K  F  D  V  G  D  W  L  E  S  I         p.1680

          .         .         .         .         .         .       g.56862
 CACCTAGGCGAGCACCGCGACCGCTTCGAGGACCATGAGATAGAAGGCGCGCACCTACCC       c.5100
 H  L  G  E  H  R  D  R  F  E  D  H  E  I  E  G  A  H  L  P         p.1700

          .         .         .         .         .         .       g.56922
 GCGCTTACCAAGGACGACTTCGTGGAGCTGGGCGTCACGCGCGTGGGCCACCGCATGAAC       c.5160
 A  L  T  K  D  D  F  V  E  L  G  V  T  R  V  G  H  R  M  N         p.1720

          .         .         .                                     g.56958
 ATCGAGCGCGCGCTCAGGCAGCTGGACGGCAGCTGA                               c.5196
 I  E  R  A  L  R  Q  L  D  G  S  X                                 p.1731

          .         .         .         .         .         .       g.57018
 cgccccacccccactcccgccccggccgtgccctgccggcagggccccccacccccaccc       c.*60

          .         .         .         .         .         .       g.57078
 cgggccgcgggctcggcctgccccttacgacggcgcccgggccaggaatgttgcatgaat       c.*120

          .         .         .         .         .         .       g.57138
 cgtcctgtttgctgttgctcggagactcgccctgtacattgcttagtgccctcaccggcc       c.*180

          .         .         .         .         .         .       g.57198
 gcccagcccacccagcgcacagtcaggaagggcgtggaccagggaggctggggcgggagg       c.*240

          .         .         .         .         .         .       g.57258
 tgccgggggtggggtgccctagcgtgaccacctccttcgcagctcctggtggccattctc       c.*300

          .         .         .         .         .         .       g.57318
 ccagagggggaacctagtccagcatgcgaggtcaggacccgccttggtgactcgggggga       c.*360

          .         .         .         .         .         .       g.57378
 ggggggagacattgggattctcgatgggggccaaggagcccccctgttttgcatatttta       c.*420

          .         .         .         .         .         .       g.57438
 atccactctatatttggaacgagaaaaggaacaaatatctctgtccgtaatagtttcctc       c.*480

          .         .         .         .         .         .       g.57498
 tcccctcccttctacttccactggtcccactgcagctgcccagtcttccatctccggccc       c.*540

          .         .         .         .         .         .       g.57558
 ctcactgccactgccaccccacaacggggcaggggacgctccagctggtctggggttggc       c.*600

          .         .         .         .         .         .       g.57618
 cagggccctagtggcccgccctggggccccagctcggcccctcgcctcgctgagctctag       c.*660

          .         .         .         .         .         .       g.57678
 tgtgccccaccgacccttcaggtgctgctcgtggtgggaggggcggcaggccgcgggtcc       c.*720

          .         .         .         .         .         .       g.57738
 tgctgtgcacccgcgggaccagccggcctgggagaccatcggccgggggggatgagggca       c.*780

          .         .         .         .         .         .       g.57798
 gggccctgccgctccaccgcagccatcttcctcacagggtctctccccaaggagggggct       c.*840

          .         .         .         .         .         .       g.57858
 agcttggtccccatgctcttgggcaactacagcagagaagcctccctgccttggacccca       c.*900

          .         .         .         .         .         .       g.57918
 aagtctcctgtcctgccctttatgtgtgtgggtgaaactgggtgcgtctgagcacgtggg       c.*960

          .         .         .         .         .         .       g.57978
 agccgtgtgtgtgcctgattactgagtggccaccaggggccgctctggactagcgcgggg       c.*1020

          .         .         .         .         .         .       g.58038
 ccgtggaggcgtgcaccgtgtgcatgcgtggggtgtacctgtgagagcaccctgtctcct       c.*1080

          .         .         .         .         .         .       g.58098
 cttccaaagaaagtcagaggccatcctgcaccctgggtccagctgtttgcccagcctgtc       c.*1140

          .         .         .         .         .         .       g.58158
 cttccagagcctcacccagcctgagcggggttccctggtgaatccctgctgcttggggag       c.*1200

          .         .         .         .         .         .       g.58218
 gccccaagggccccttggaggcagcgcccccaccttgggcttctgagggcatcatagggg       c.*1260

          .         .         .         .         .         .       g.58278
 gacccctagagtcagttcaccacaggccctggggagagtcaaagacccccgagggtgccc       c.*1320

          .         .         .         .         .         .       g.58338
 agccccccacactgtgactcctcacactcagcgatgacctgtggggtggggggccctggg       c.*1380

          .         .         .         .         .         .       g.58398
 acgtttttaaacctagggtttggagtctggactaagctccatccacgtcactcacaagtt       c.*1440

          .         .         .         .         .         .       g.58458
 tctgtttatatttctagctttttttaataaaataaaaaaaaaaagaaaacagaagttttc       c.*1500

          .         .         .         .         .         .       g.58518
 acaacccaggggcctggcacgccggtctgtgcctgcccgccccgccctggcccaccggcc       c.*1560

          .         .         .         .         .         .       g.58578
 ccactccctgggcacagagtcacacccactcatccttccgccaacagtccaggtcacaca       c.*1620

          .         .         .         .         .         .       g.58638
 gcagcagtcactgtaacagactgccacatacacactcggtctcacactcacctgtgggtt       c.*1680

          .         .         .         .         .         .       g.58698
 ttggttccgttcaatttgggtttttaactttacagggtcagttccgcttcacctcctttt       c.*1740

          .         .         .         .         .         .       g.58758
 gtatggagttccatccggggggtttcaccccctgctccagtcctgaggcctcctgaccct       c.*1800

          .         .         .         .         .         .       g.58818
 gacgttgtgatacgccccacagagatctatgtttcttatattattattattgataataat       c.*1860

          .         .         .         .                           g.58858
 tattataatattattatgtaataaatttataagaaatgaa                           c.*1900

 (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 SH3 and multiple ankyrin repeat domains 3 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 16
©2004-2016 Leiden University Medical Center