HECT domain containing E3 ubiquitin protein ligase 1 (HECTD1) - coding DNA reference sequence

(used for variant description)

(last modified January 31, 2025)


This file was created to facilitate the description of sequence variants on transcript NM_015382.2 in the HECTD1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000014.8, covering HECTD1 transcript NM_015382.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5009
                                                    ggcttcttg       c.-481

 .         .         .         .         .         .                g.5069
 ggaactctagggccgcggccgggcctggctctgccggcggcctgttgggagctggatcgg       c.-421

 .         .         .         .         .         .                g.5129
 agcggtttggaacgacaagcccgagtaagagcctgcgggaaggggaggcgggagcgcctc       c.-361

 .         .         .         .         .         .                g.5189
 ggaccgtcggaagggccctgcgtgggggcgcggatcccggacgcccggcgagtggcggaa       c.-301

 .         .         .         .         .         .                g.5249
 agcgagaccccggcgccgagtgaggtcggccaggctgctgccgacttccccgctggcccc       c.-241

 .         .         .         .         .         .                g.5309
 tttgttcccctcccggggccctgccggcggcggggcccggttgcccgcgccagagcctca       c.-181

 .         .         .         .         .         .                g.5369
 ggccggctccttttgcccttgagaagggttcgctgccaggccttcgagttccgggcgcag       c.-121

 .         .         .         .         .         .                g.5429
 ctcccgggagagccggcgccctgcctggcccggcggcctcctctcgggcacgaaggcttg       c.-61

 .         .         .         .         | 02         .             g.6547
 ctgctgcttctccagaacttcccttcctcgtagacacag | caaagagacttttaaaaaacc    c.-1

          .         .         .         .         .         .       g.6607
 ATGGCAGATGTGGACCCAGATACATTGCTGGAATGGCTACAGATGGGACAGGGAGATGAA       c.60
 M  A  D  V  D  P  D  T  L  L  E  W  L  Q  M  G  Q  G  D  E         p.20

          .         .         .         .         .         .       g.6667
 AGGGACATGCAACTAATAGCCCTTGAACAGCTATGCATGCTGCTTTTGATGTCTGACAAC       c.120
 R  D  M  Q  L  I  A  L  E  Q  L  C  M  L  L  L  M  S  D  N         p.40

          .         . | 03       .         .         .         .    g.34269
 GTGGATCGTTGTTTTGAAAC | ATGTCCTCCTCGCACTTTCTTACCAGCCCTTTGCAAAATT    c.180
 V  D  R  C  F  E  T  |  C  P  P  R  T  F  L  P  A  L  C  K  I      p.60

          .         .         .         .         .         .       g.34329
 TTTCTTGATGAAAGTGCTCCAGACAATGTATTAGAGGTGACAGCCCGTGCCATAACATAC       c.240
 F  L  D  E  S  A  P  D  N  V  L  E  V  T  A  R  A  I  T  Y         p.80

          .         .         .         .         .         .       g.34389
 TACCTGGATGTATCTGCGGAATGTACCCGAAGGATTGTTGGGGTAGATGGAGCTATAAAA       c.300
 Y  L  D  V  S  A  E  C  T  R  R  I  V  G  V  D  G  A  I  K         p.100

          .         .         .         .         .         .       g.34449
 GCACTTTGTAATCGTTTGGTTGTAGTTGAACTTAACAACAGGACTAGCAGAGACTTAGCC       c.360
 A  L  C  N  R  L  V  V  V  E  L  N  N  R  T  S  R  D  L  A         p.120

          .      | 04  .         .         .         .         .    g.37390
 GAACAGTGTGTAAAG | GTATTAGAACTGATATGTACTCGTGAGTCAGGAGCAGTCTTTGAG    c.420
 E  Q  C  V  K   | V  L  E  L  I  C  T  R  E  S  G  A  V  F  E      p.140

          .         .         .         .         .         .       g.37450
 GCTGGTGGTTTGAATTGTGTGCTTACCTTCATTCGTGACAGTGGACATCTAGTTCATAAA       c.480
 A  G  G  L  N  C  V  L  T  F  I  R  D  S  G  H  L  V  H  K         p.160

          .         .         .         .         .         .       g.37510
 GACACCTTGCACTCTGCTATGGCTGTGGTATCAAGACTCTGTGGCAAAATGGAGCCTCAA       c.540
 D  T  L  H  S  A  M  A  V  V  S  R  L  C  G  K  M  E  P  Q         p.180

          .         .         .         .         .         .       g.37570
 GATTCTTCTTTAGAAATTTGTGTAGAATCTCTGTCTAGTTTATTAAAGCATGAAGATCAT       c.600
 D  S  S  L  E  I  C  V  E  S  L  S  S  L  L  K  H  E  D  H         p.200

     | 05    .         .         .         .         .         .    g.38734
 CAG | GTTTCAGATGGAGCTCTGCGATGCTTTGCATCACTGGCTGACCGATTTACCCGTCGT    c.660
 Q   | V  S  D  G  A  L  R  C  F  A  S  L  A  D  R  F  T  R  R      p.220

          .         .         .         .         .         .       g.38794
 GGTGTTGACCCAGCTCCATTAGCCAAGCATGGATTAACTGAGGAGCTGTTATCTCGAATG       c.720
 G  V  D  P  A  P  L  A  K  H  G  L  T  E  E  L  L  S  R  M         p.240

          .         .         .         .         .         .       g.38854
 GCTGCTGCTGGTGGTACTGTTTCAGGACCATCATCAGCATGCAAACCAGGTCGCAGCACC       c.780
 A  A  A  G  G  T  V  S  G  P  S  S  A  C  K  P  G  R  S  T         p.260

          .         .         .         .         .         .       g.38914
 ACAGGAGCTCCATCCACCACTGCAGATTCCAAATTGAGTAATCAGGTGTCAACAATTGTA       c.840
 T  G  A  P  S  T  T  A  D  S  K  L  S  N  Q  V  S  T  I  V         p.280

          .         .         .         .      | 06  .         .    g.39072
 AGTCTGCTCTCAACACTTTGCAGAGGCTCTCCGGTAGTAACACAT | GATCTTCTGAGGTCG    c.900
 S  L  L  S  T  L  C  R  G  S  P  V  V  T  H   | D  L  L  R  S      p.300

          .         .         .         .         .         .       g.39132
 GAGCTTCCAGATTCAATTGAAAGTGCATTGCAGGGTGATGAAAGATGTGTGCTTGATACT       c.960
 E  L  P  D  S  I  E  S  A  L  Q  G  D  E  R  C  V  L  D  T         p.320

          .         .         .         .         .         .       g.39192
 ATGCGTTTGGTTGACCTTCTCTTGGTGCTATTATTTGAAGGACGAAAAGCTTTGCCAAAG       c.1020
 M  R  L  V  D  L  L  L  V  L  L  F  E  G  R  K  A  L  P  K         p.340

          .         .         .         .         .         .       g.39252
 TCTAGTGCTGGATCTACAGGCAGAATCCCAGGACTCCGGAGATTAGATAGTTCTGGGGAG       c.1080
 S  S  A  G  S  T  G  R  I  P  G  L  R  R  L  D  S  S  G  E         p.360

          .         .         .         .         .         .       g.39312
 CGCTCACATCGGCAGCTTATAGATTGTATTCGAAGTAAAGATACCGATGCACTTATAGAT       c.1140
 R  S  H  R  Q  L  I  D  C  I  R  S  K  D  T  D  A  L  I  D         p.380

          .       | 07 .         .         .         .         .    g.40405
 GCAATTGACACAGGAG | CCTTTGAAGTAAATTTTATGGATGATGTAGGTCAGACTCTATTA    c.1200
 A  I  D  T  G  A |   F  E  V  N  F  M  D  D  V  G  Q  T  L  L      p.400

          .         .         .    | 08    .         .         .    g.40551
 AACTGGGCCTCTGCTTTTGGAACTCAGGAAATG | GTAGAATTTCTTTGTGAGAGAGGTGCA    c.1260
 N  W  A  S  A  F  G  T  Q  E  M   | V  E  F  L  C  E  R  G  A      p.420

          .         .         .         .         .         .       g.40611
 GATGTTAATAGAGGTCAAAGGTCATCATCATTACATTATGCTGCATGTTTTGGAAGACCT       c.1320
 D  V  N  R  G  Q  R  S  S  S  L  H  Y  A  A  C  F  G  R  P         p.440

          .   | 09     .         .         .         .         .    g.43063
 CAAGTAGCAAAG | ACTCTGTTACGGCATGGTGCAAATCCAGATCTGAGAGATGAAGATGGG    c.1380
 Q  V  A  K   | T  L  L  R  H  G  A  N  P  D  L  R  D  E  D  G      p.460

          .         .         .         .         .         .       g.43123
 AAAACTCCATTAGATAAAGCTCGAGAAAGGGGCCATAGTGAAGTGGTAGCTATTCTTCAG       c.1440
 K  T  P  L  D  K  A  R  E  R  G  H  S  E  V  V  A  I  L  Q         p.480

         | 10.         .         .         .         .         .    g.44064
 TCTCCAG | GTGATTGGATGTGTCCAGTTAATAAAGGAGATGATAAGAAAAAGAAAGATACA    c.1500
 S  P  G |   D  W  M  C  P  V  N  K  G  D  D  K  K  K  K  D  T      p.500

          .         .         .         .         .         .       g.44124
 AACAAAGATGAAGAAGAATGTAATGAGCCCAAAGGAGATCCGGAAATGGCACCCATATAC       c.1560
 N  K  D  E  E  E  C  N  E  P  K  G  D  P  E  M  A  P  I  Y         p.520

          .         .         .         .         .         .       g.44184
 TTGAAAAGGTTATTGCCAGTGTTTGCACAAACATTTCAGCAAACTATGCTGCCTTCAATA       c.1620
 L  K  R  L  L  P  V  F  A  Q  T  F  Q  Q  T  M  L  P  S  I         p.540

    | 11     .         .         .         .         .         .    g.55238
 AG | GAAAGCAAGTCTTGCTCTAATTCGAAAAATGATTCATTTTTGCTCTGAAGCACTGTTA    c.1680
 R  |  K  A  S  L  A  L  I  R  K  M  I  H  F  C  S  E  A  L  L      p.560

          .         .         .         .         .         .       g.55298
 AAAGAAGTTTGTGATTCTGATGTTGGTCACAATTTGCCTACAATACTAGTGGAAATCACT       c.1740
 K  E  V  C  D  S  D  V  G  H  N  L  P  T  I  L  V  E  I  T         p.580

          .         .  | 12      .         .         .         .    g.55512
 GCAACTGTCCTGGATCAAGAG | GATGATGATGATGGCCACTTGCTGGCTTTGCAGATCATA    c.1800
 A  T  V  L  D  Q  E   | D  D  D  D  G  H  L  L  A  L  Q  I  I      p.600

          .         .         .         .         .         .       g.55572
 AGGGATTTAGTAGATAAAGGTGGTGATATATTTTTGGATCAGCTAGCCAGACTTGGTGTA       c.1860
 R  D  L  V  D  K  G  G  D  I  F  L  D  Q  L  A  R  L  G  V         p.620

          .         .         .         .         .         .       g.55632
 ATTAGCAAAGTGTCAACGTTGGCAGGTCCTTCCTCTGATGATGAGAATGAAGAGGAATCA       c.1920
 I  S  K  V  S  T  L  A  G  P  S  S  D  D  E  N  E  E  E  S         p.640

          .   | 13     .         .         .         .         .    g.62310
 AAACCAGAAAAA | GAAGATGAACCACAGGAAGATGCTAAAGAATTGCAACAAGGTAAACCA    c.1980
 K  P  E  K   | E  D  E  P  Q  E  D  A  K  E  L  Q  Q  G  K  P      p.660

          .         .         .         .         .         .       g.62370
 TATCATTGGAGAGACTGGTCAATCATTAGGGGAAGGGACTGCTTATATATTTGGAGTGAT       c.2040
 Y  H  W  R  D  W  S  I  I  R  G  R  D  C  L  Y  I  W  S  D         p.680

          .         .         .         .         .         .       g.62430
 GCAGCAGCCTTGGAATTATCTAATGGCAGTAATGGATGGTTCAGATTTATCTTGGATGGA       c.2100
 A  A  A  L  E  L  S  N  G  S  N  G  W  F  R  F  I  L  D  G         p.700

          .         .         .         .         .      | 14  .    g.63328
 AAACTTGCCACCATGTATTCAAGTGGTAGTCCGGAAGGTGGATCTGACAGTTCAG | AAAGC    c.2160
 K  L  A  T  M  Y  S  S  G  S  P  E  G  G  S  D  S  S  E |   S      p.720

          .         .         .         .         .         .       g.63388
 CGAAGTGAATTCTTAGAGAAGTTACAAAGAGCTCGAGGCCAAGTAAAGCCATCTACTTCA       c.2220
 R  S  E  F  L  E  K  L  Q  R  A  R  G  Q  V  K  P  S  T  S         p.740

          .         .         .         .         .         .       g.63448
 AGTCAACCTATACTGTCAGCACCAGGACCCACTAAACTTACTGTAGGAAATTGGTCACTG       c.2280
 S  Q  P  I  L  S  A  P  G  P  T  K  L  T  V  G  N  W  S  L         p.760

          .         .         .         .         .         .       g.63508
 ACATGTTTGAAAGAAGGAGAAATTGCTATTCATAATTCAGATGGTCAGCAAGCTACAATA       c.2340
 T  C  L  K  E  G  E  I  A  I  H  N  S  D  G  Q  Q  A  T  I         p.780

          .         .         .         .         .         .       g.63568
 TTGAAAGAAGATTTACCTGGTTTTGTATTTGAATCTAATAGAGGAACCAAACATTCATTT       c.2400
 L  K  E  D  L  P  G  F  V  F  E  S  N  R  G  T  K  H  S  F         p.800

          .          | 15        .         .         .         .    g.63727
 ACTGCAGAAACTTCCCTGG | GTTCAGAATTTGTGACTGGCTGGACTGGCAAAAGAGGCAGA    c.2460
 T  A  E  T  S  L  G |   S  E  F  V  T  G  W  T  G  K  R  G  R      p.820

          .         .         .       | 16 .         .         .    g.67566
 AAACTGAAATCTAAGTTAGAAAAAACAAAGCAAAAG | GTACGAACTATGGCTCGAGATTTA    c.2520
 K  L  K  S  K  L  E  K  T  K  Q  K   | V  R  T  M  A  R  D  L      p.840

          .         .         .         .         .         .       g.67626
 TACGATGACCATTTTAAAGCTGTTGAAAGCATGCCTCGTGGAGTAGTGGTAACACTCAGA       c.2580
 Y  D  D  H  F  K  A  V  E  S  M  P  R  G  V  V  V  T  L  R         p.860

          .         .         .         .         .  | 17      .    g.68235
 AACATAGCAACTCAGTTAGAGTCATCTTGGGAACTTCATACAAATAGACAA | TGTATTGAG    c.2640
 N  I  A  T  Q  L  E  S  S  W  E  L  H  T  N  R  Q   | C  I  E      p.880

          .         .         .         .         .         .       g.68295
 AGTGAGAACACTTGGAGAGATTTAATGAAGACAGCTTTAGAAAACCTAATTGTACTTTTG       c.2700
 S  E  N  T  W  R  D  L  M  K  T  A  L  E  N  L  I  V  L  L         p.900

          .         .         .         .         .         .       g.68355
 AAGGATGAAAACACAATTTCACCATATGAAATGTGTAGCAGTGGCTTGGTACAAGCACTT       c.2760
 K  D  E  N  T  I  S  P  Y  E  M  C  S  S  G  L  V  Q  A  L         p.920

          .         | 18         .         .         .         .    g.70573
 CTTACTGTGTTAAACAAT | AGCATGGATTTGGATATGAAACAAGATTGTAGTCAACTGGTA    c.2820
 L  T  V  L  N  N   | S  M  D  L  D  M  K  Q  D  C  S  Q  L  V      p.940

          .         .         .         .         .    | 19    .    g.72493
 GAAAGAATAAATGTTTTTAAAACTGCCTTTAGTGAAAATGAAGATGATGAAAG | TCGACCA    c.2880
 E  R  I  N  V  F  K  T  A  F  S  E  N  E  D  D  E  S  |  R  P      p.960

          .         .         .         .         .         .       g.72553
 GCAGTTGCGTTAATTCGAAAGTTAATAGCTGTACTAGAATCTATTGAACGTCTACCTCTC       c.2940
 A  V  A  L  I  R  K  L  I  A  V  L  E  S  I  E  R  L  P  L         p.980

          .         .         .          | 20        .         .    g.75839
 CATTTGTATGATACACCAGGATCCACATATAACCTCCAG | ATACTTACAAGGAGATTACGA    c.3000
 H  L  Y  D  T  P  G  S  T  Y  N  L  Q   | I  L  T  R  R  L  R      p.1000

          .         .         .         .         .         .       g.75899
 TTTCGGTTGGAACGTGCACCTGGTGAAACTGCATTGATTGACAGGACTGGCAGAATGTTG       c.3060
 F  R  L  E  R  A  P  G  E  T  A  L  I  D  R  T  G  R  M  L         p.1020

          .         .         .         .         .     | 21   .    g.76874
 AAGATGGAACCTTTGGCTACAGTTGAATCTCTGGAACAGTACCTTTTGAAAATG | GTAGCA    c.3120
 K  M  E  P  L  A  T  V  E  S  L  E  Q  Y  L  L  K  M   | V  A      p.1040

          .         .         .         .         .         .       g.76934
 AAACAGTGGTATGATTTTGACCGATCTTCATTTGTTTTTGTTCGAAAATTAAGAGAAGGA       c.3180
 K  Q  W  Y  D  F  D  R  S  S  F  V  F  V  R  K  L  R  E  G         p.1060

          .         .         .         .         .         .       g.76994
 CAAAATTTTATATTTCGGCACCAGCATGATTTTGATGAAAATGGAATCATTTACTGGATT       c.3240
 Q  N  F  I  F  R  H  Q  H  D  F  D  E  N  G  I  I  Y  W  I         p.1080

          .     | 22   .         .         .         .         .    g.77334
 GGAACAAATGCAAA | AACTGCTTATGAATGGGTAAATCCAGCTGCCTATGGACTTGTAGTA    c.3300
 G  T  N  A  K  |  T  A  Y  E  W  V  N  P  A  A  Y  G  L  V  V      p.1100

          .         .         .         .         .         .       g.77394
 GTAACGTCATCAGAAGGAAGAAATCTACCTTATGGCCGCTTAGAAGACATACTAAGTCGT       c.3360
 V  T  S  S  E  G  R  N  L  P  Y  G  R  L  E  D  I  L  S  R         p.1120

          .         .         .         .         .         .       g.77454
 GATAATTCAGCTTTAAATTGTCATAGCAATGATGATAAGAATGCCTGGTTTGCCATAGAT       c.3420
 D  N  S  A  L  N  C  H  S  N  D  D  K  N  A  W  F  A  I  D         p.1140

          .         .         .         .         .         .       g.77514
 CTGGGTCTCTGGGTGATACCATCAGCATATACACTTCGTCATGCTCGTGGTTATGGAAGG       c.3480
 L  G  L  W  V  I  P  S  A  Y  T  L  R  H  A  R  G  Y  G  R         p.1160

          .         .         .         .         .         .       g.77574
 TCTGCACTGAGAAATTGGGTTTTCCAGGTATCCAAAGATGGACAGAACTGGACTTCTTTG       c.3540
 S  A  L  R  N  W  V  F  Q  V  S  K  D  G  Q  N  W  T  S  L         p.1180

          .         .         .         | 23         .         .    g.78830
 TATACCCATGTTGATGACTGCAGTCTCAATGAACCAGG | GTCAACTGCAACTTGGCCTCTT    c.3600
 Y  T  H  V  D  D  C  S  L  N  E  P  G  |  S  T  A  T  W  P  L      p.1200

          .         .         .         .         .         .       g.78890
 GATCCACCAAAGGATGAGAAACAAGGGTGGAGACATGTGAGAATTAAACAGATGGGGAAA       c.3660
 D  P  P  K  D  E  K  Q  G  W  R  H  V  R  I  K  Q  M  G  K         p.1220

          .         .         .         .         .         .       g.78950
 AATGCCAGTGGACAAACACACTACCTCTCATTATCTGGATTCGAACTTTATGGCACTGTA       c.3720
 N  A  S  G  Q  T  H  Y  L  S  L  S  G  F  E  L  Y  G  T  V         p.1240

          .         .      | 24  .         .         .         .    g.79104
 AATGGAGTATGTGAAGATCAGCTAG | GGAAAGCAGCTAAAGAAGCAGAAGCTAATCTTAGA    c.3780
 N  G  V  C  E  D  Q  L  G |   K  A  A  K  E  A  E  A  N  L  R      p.1260

          .         .         .         .         .         .       g.79164
 CGGCAGAGACGTCTAGTACGTTCCCAGGTTCTGAAATACATGGTTCCAGGAGCTCGTGTT       c.3840
 R  Q  R  R  L  V  R  S  Q  V  L  K  Y  M  V  P  G  A  R  V         p.1280

          .         .         .         .         .         .       g.79224
 ATCAGAGGCCTGGATTGGAAATGGCGAGATCAGGATGGCAGCCCACAGGGAGAAGGCACT       c.3900
 I  R  G  L  D  W  K  W  R  D  Q  D  G  S  P  Q  G  E  G  T         p.1300

          .         .   | 25     .         .         .         .    g.83073
 GTCACAGGAGAACTACACAATG | GCTGGATTGATGTCACCTGGGATGCTGGTGGCTCAAAC    c.3960
 V  T  G  E  L  H  N  G |   W  I  D  V  T  W  D  A  G  G  S  N      p.1320

          .         .         .         .         .         .       g.83133
 TCTTACCGTATGGGCGCAGAAGGAAAATTTGACCTCAAGCTTGCACCAGGGTACGACCCT       c.4020
 S  Y  R  M  G  A  E  G  K  F  D  L  K  L  A  P  G  Y  D  P         p.1340

          .         .         .         .         .         .       g.83193
 GATACAGTGGCATCACCCAAACCTGTTTCATCCACTGTTTCAGGCACAACGCAATCATGG       c.4080
 D  T  V  A  S  P  K  P  V  S  S  T  V  S  G  T  T  Q  S  W         p.1360

          .         .         .         .         .         .       g.83253
 AGCAGCTTGGTGAAAAACAACTGTCCAGACAAGACATCTGCTGCTGCAGGCTCCTCAAGT       c.4140
 S  S  L  V  K  N  N  C  P  D  K  T  S  A  A  A  G  S  S  S         p.1380

          .         .         .         .         .         .       g.83313
 AGAAAAGGAAGCAGCAGTTCTGTGTGTAGCGTGGCCAGTAGCAGCGACATCAGCTTGGGT       c.4200
 R  K  G  S  S  S  S  V  C  S  V  A  S  S  S  D  I  S  L  G         p.1400

          .         .         .         .         .         .       g.83373
 TCGACCAAAACGGAACGGAGATCAGAAATTGTAATGGAACACAGTATAGTTTCAGGAGCT       c.4260
 S  T  K  T  E  R  R  S  E  I  V  M  E  H  S  I  V  S  G  A         p.1420

          .         .         .         .         .         .       g.83433
 GATGTCCATGAACCAATTGTTGTTCTTTCATCTGCTGAAAACGTCCCTCAAACAGAAGTA       c.4320
 D  V  H  E  P  I  V  V  L  S  S  A  E  N  V  P  Q  T  E  V         p.1440

          .         .         .         .         .         .       g.83493
 GGGTCATCTTCCAGTGCAAGCACCAGCACCTTAACAGCGGAAACGGGAAGTGAAAATGCT       c.4380
 G  S  S  S  S  A  S  T  S  T  L  T  A  E  T  G  S  E  N  A         p.1460

          .         .         .         .         .         .       g.83553
 GAAAGGAAGTTAGGCCCTGATAGTTCTGTTCGTACTCCTGGGGAGTCTAGTGCAATATCC       c.4440
 E  R  K  L  G  P  D  S  S  V  R  T  P  G  E  S  S  A  I  S         p.1480

          .         .         .         .         .         .       g.83613
 ATGGGAATTGTCAGTGTTAGTTCTCCTGATGTTAGTTCAGTATCTGAATTAACTAATAAA       c.4500
 M  G  I  V  S  V  S  S  P  D  V  S  S  V  S  E  L  T  N  K         p.1500

          .         .         .         .         .         .       g.83673
 GAAGCAGCTTCACAACGACCTCTTAGCTCTTCAGCAAGTAACAGACTGTCAGTGAGTTCT       c.4560
 E  A  A  S  Q  R  P  L  S  S  S  A  S  N  R  L  S  V  S  S         p.1520

          .         .         .         .         .         .       g.83733
 TTGTTGGCTGCTGGGGCCCCTATGAGCTCTAGTGCAAGTGTACCTAACCTGTCCTCAAGA       c.4620
 L  L  A  A  G  A  P  M  S  S  S  A  S  V  P  N  L  S  S  R         p.1540

          .         .         .         .         .         .       g.83793
 GAAACATCTAGCTTGGAGAGTTTTGTAAGGAGAGTGGCAAACATAGCACGGACTAATGCC       c.4680
 E  T  S  S  L  E  S  F  V  R  R  V  A  N  I  A  R  T  N  A         p.1560

          .         .         .         .         .         .       g.83853
 ACGAACAACATGAATCTAAGCCGAAGCAGCAGTGATAACAACACTAATACTTTGGGGAGG       c.4740
 T  N  N  M  N  L  S  R  S  S  S  D  N  N  T  N  T  L  G  R         p.1580

          .          | 26        .         .         .         .    g.84518
 AATGTGATGAGCACAGCAA | CTTCTCCTCTTATGGGTGCTCAGAGTTTCCCTAATTTGACC    c.4800
 N  V  M  S  T  A  T |   S  P  L  M  G  A  Q  S  F  P  N  L  T      p.1600

          .         .         .         .         .         .       g.84578
 ACACCTGGTACTACATCAACAGTGACTATGTCAACATCCAGTGTTACTAGCAGCAGCAAT       c.4860
 T  P  G  T  T  S  T  V  T  M  S  T  S  S  V  T  S  S  S  N         p.1620

          .         .         .         .         .         .       g.84638
 GTAGCTACAGCAACAACAGTTTTATCAGTTGGTCAATCTTTAAGTAACACTTTAACCACC       c.4920
 V  A  T  A  T  T  V  L  S  V  G  Q  S  L  S  N  T  L  T  T         p.1640

          .         .         .         .         .         .       g.84698
 AGCCTCACATCAACTTCCAGTGAGAGTGACACAGGTCAGGAAGCAGAATATTCCTTATAT       c.4980
 S  L  T  S  T  S  S  E  S  D  T  G  Q  E  A  E  Y  S  L  Y         p.1660

   | 27      .         .         .         .         .         .    g.89495
 G | ATTTCCTTGATAGCTGCCGTGCCAGTACTCTATTGGCTGAGCTCGATGATGATGAGGAC    c.5040
 D |   F  L  D  S  C  R  A  S  T  L  L  A  E  L  D  D  D  E  D      p.1680

          .         .         .         .         .         .       g.89555
 TTACCTGAGCCAGATGAAGAAGATGATGAGAATGAAGATGACAATCAGGAGGACCAAGAA       c.5100
 L  P  E  P  D  E  E  D  D  E  N  E  D  D  N  Q  E  D  Q  E         p.1700

          .      | 28  .         .         .         .         .    g.91023
 TACGAGGAGGTTATG | ATTCTGAGACGCCCATCCCTGCAACGTCGAGCTGGCTCCCGCTCT    c.5160
 Y  E  E  V  M   | I  L  R  R  P  S  L  Q  R  R  A  G  S  R  S      p.1720

          .         .         .         .         .         .       g.91083
 GATGTAACGCATCATGCTGTTACCTCGCAGCTACCACAGGTACCTGCTGGAGCAGGGAGC       c.5220
 D  V  T  H  H  A  V  T  S  Q  L  P  Q  V  P  A  G  A  G  S         p.1740

          .         | 29         .         .         .         .    g.92659
 CGACCTATTGGGGAGCAG | GAAGAAGAAGAGTACGAAACTAAAGGAGGACGCCGGAGAACA    c.5280
 R  P  I  G  E  Q   | E  E  E  E  Y  E  T  K  G  G  R  R  R  T      p.1760

          .         .         .         .         .         .       g.92719
 TGGGATGATGATTATGTGCTAAAGAGACAGTTTTCTGCATTGGTTCCTGCTTTTGATCCT       c.5340
 W  D  D  D  Y  V  L  K  R  Q  F  S  A  L  V  P  A  F  D  P         p.1780

          .         .         .         .         .      | 30  .    g.96030
 AGACCTGGTCGTACTAATGTCCAGCAGACAACTGATCTAGAAATACCACCCCCAG | GGACC    c.5400
 R  P  G  R  T  N  V  Q  Q  T  T  D  L  E  I  P  P  P  G |   T      p.1800

          .         .         .         .         .         .       g.96090
 CCTCATTCAGAGCTCTTGGAAGAAGTCGAATGTACTCCGTCACCTCGATTAGCTCTCACT       c.5460
 P  H  S  E  L  L  E  E  V  E  C  T  P  S  P  R  L  A  L  T         p.1820

          .         .         .         .         .         .       g.96150
 TTGAAAGTAACAGGTCTTGGAACGACTCGTGAAGTTGAATTACCACTCACCAATTTCAGA       c.5520
 L  K  V  T  G  L  G  T  T  R  E  V  E  L  P  L  T  N  F  R         p.1840

          .         .         .         .         .         .       g.96210
 TCAACCATCTTTTACTATGTACAAAAATTGCTTCAATTGTCCTGTAATGGCAATGTGAAA       c.5580
 S  T  I  F  Y  Y  V  Q  K  L  L  Q  L  S  C  N  G  N  V  K         p.1860

          .         .         .         | 31         .         .    g.98165
 TCAGATAAACTTAGGCGTATTTGGGAGCCCACATACAC | AATCATGTACAGAGAAATGAAG    c.5640
 S  D  K  L  R  R  I  W  E  P  T  Y  T  |  I  M  Y  R  E  M  K      p.1880

          .         .         .    | 32    .         .         .    g.98451
 GATTCTGATAAAGAAAAGGAAAATGGAAAAATG | GGTTGCTGGTCTATAGAGCATGTGGAG    c.5700
 D  S  D  K  E  K  E  N  G  K  M   | G  C  W  S  I  E  H  V  E      p.1900

          .         .         .         .         .         .       g.98511
 CAGTACCTTGGCACTGATGAATTACCAAAGAATGACTTGATAACCTACCTGCAGAAGAAT       c.5760
 Q  Y  L  G  T  D  E  L  P  K  N  D  L  I  T  Y  L  Q  K  N         p.1920

          .         .         .         .         .         .       g.98571
 GCAGACGCTGCTTTCCTGCGCCACTGGAAATTAACTGGCACTAATAAAAGTATTAGGAAA       c.5820
 A  D  A  A  F  L  R  H  W  K  L  T  G  T  N  K  S  I  R  K         p.1940

          .         .         .       | 33 .         .         .    g.99023
 AACAGAAATTGTTCTCAGCTCATAGCTGCATATAAG | GATTTTTGTGAGCATGGAACAAAG    c.5880
 N  R  N  C  S  Q  L  I  A  A  Y  K   | D  F  C  E  H  G  T  K      p.1960

          .         .         .         .         .         .       g.99083
 TCTGGGTTAAACCAGGGGGCCATTTCTACTCTTCAAAGTAGTGATATTCTTAATTTAACA       c.5940
 S  G  L  N  Q  G  A  I  S  T  L  Q  S  S  D  I  L  N  L  T         p.1980

          .         .         .         .         .         .       g.99143
 AAAGAACAACCTCAGGCCAAAGCAGGCAATGGACAGAACTCTTGTGGAGTAGAAGATGTC       c.6000
 K  E  Q  P  Q  A  K  A  G  N  G  Q  N  S  C  G  V  E  D  V         p.2000

          .         .         .         .         .         .       g.99203
 CTTCAGCTTCTGCGTATTCTATATATAGTTGCAAGTGACCCTTATTCAAGAATATCCCAG       c.6060
 L  Q  L  L  R  I  L  Y  I  V  A  S  D  P  Y  S  R  I  S  Q         p.2020

      | 34   .         .         .         .         .         .    g.99350
 GAAG | ATGGTGATGAACAGCTTCAGTTTACTTTTCCACCAGATGAATTCACTAGCAAAAAA    c.6120
 E  D |   G  D  E  Q  L  Q  F  T  F  P  P  D  E  F  T  S  K  K      p.2040

          .         .         . | 35       .         .         .    g.99970
 ATTACAACAAAAATATTACAGCAGATTGAG | GAACCATTGGCACTGGCAAGTGGGGCTCTG    c.6180
 I  T  T  K  I  L  Q  Q  I  E   | E  P  L  A  L  A  S  G  A  L      p.2060

          .         .         .         .         .         .       g.100030
 CCAGACTGGTGTGAACAATTAACCAGCAAATGTCCTTTTCTAATACCATTTGAAACTAGA       c.6240
 P  D  W  C  E  Q  L  T  S  K  C  P  F  L  I  P  F  E  T  R         p.2080

          .         .         .         | 36         .         .    g.102907
 CAGCTTTATTTCACATGTACAGCATTTGGCGCCTCAAG | AGCAATAGTATGGTTACAGAAC    c.6300
 Q  L  Y  F  T  C  T  A  F  G  A  S  R  |  A  I  V  W  L  Q  N      p.2100

          .         .         .         .         .         .       g.102967
 CGACGTGAAGCCACTGTGGAGCGAACGAGAACCACAAGCAGTGTTAGGCGAGATGACCCT       c.6360
 R  R  E  A  T  V  E  R  T  R  T  T  S  S  V  R  R  D  D  P         p.2120

          .         .         .         .         .         .       g.103027
 GGAGAGTTTCGAGTTGGTCGTCTCAAGCATGAAAGAGTAAAAGTTCCACGTGGCGAGTCA       c.6420
 G  E  F  R  V  G  R  L  K  H  E  R  V  K  V  P  R  G  E  S         p.2140

          .         .         .         .         .         .       g.103087
 CTGATGGAATGGGCTGAGAATGTCATGCAAATACATGCAGATCGGAAATCAGTTCTTGAG       c.6480
 L  M  E  W  A  E  N  V  M  Q  I  H  A  D  R  K  S  V  L  E         p.2160

  | 37       .         .         .         .         .         .    g.104839
  | GTTGAATTTTTAGGAGAAGAAGGAACTGGCTTGGGACCCACATTAGAGTTTTATGCTCTG    c.6540
  | V  E  F  L  G  E  E  G  T  G  L  G  P  T  L  E  F  Y  A  L      p.2180

          .         .         .         .         .         .       g.104899
 GTGGCAGCAGAATTCCAGAGAACTGACTTGGGAGCTTGGCTTTGTGATGATAATTTTCCA       c.6600
 V  A  A  E  F  Q  R  T  D  L  G  A  W  L  C  D  D  N  F  P         p.2200

          .         | 38         .         .         .         .    g.105272
 GATGATGAATCTCGTCAC | GTTGATCTTGGAGGTGGATTGAAACCTCCTGGATATTATGTG    c.6660
 D  D  E  S  R  H   | V  D  L  G  G  G  L  K  P  P  G  Y  Y  V      p.2220

          .         .         .         .         .         .       g.105332
 CAGAGGTCATGTGGACTGTTCACAGCACCATTTCCACAGGATAGTGATGAGCTTGAAAGG       c.6720
 Q  R  S  C  G  L  F  T  A  P  F  P  Q  D  S  D  E  L  E  R         p.2240

          .         .         .         .         .         .       g.105392
 ATCACGAAACTGTTTCATTTCCTTGGAATTTTCTTGGCCAAATGCATTCAAGACAATAGA       c.6780
 I  T  K  L  F  H  F  L  G  I  F  L  A  K  C  I  Q  D  N  R         p.2260

          .         .         .         .         .         .       g.105452
 CTTGTGGACTTACCTATTTCTAAACCTTTTTTTAAACTTATGTGTATGGGTGACATTAAA       c.6840
 L  V  D  L  P  I  S  K  P  F  F  K  L  M  C  M  G  D  I  K         p.2280

          .         .         .         .         .         .       g.105512
 AGCAATATGAGTAAACTGATTTATGAGTCACGAGGTGATAGAGACTTACACTGTACTGAA       c.6900
 S  N  M  S  K  L  I  Y  E  S  R  G  D  R  D  L  H  C  T  E         p.2300

          .         .         .         .         .         .       g.105572
 AGTCAGTCTGAAGCTTCTACAGAAGAAGGTCATGATTCACTCTCGGTAGGAAGCTTTGAA       c.6960
 S  Q  S  E  A  S  T  E  E  G  H  D  S  L  S  V  G  S  F  E         p.2320

          .         .         .         .         .         .       g.105632
 GAGGATTCAAAATCAGAATTTATTCTTGATCCCCCTAAACCAAAACCCCCAGCTTGGTTT       c.7020
 E  D  S  K  S  E  F  I  L  D  P  P  K  P  K  P  P  A  W  F         p.2340

          .         .         .         .         .         .       g.105692
 AATGGAATTTTGACTTGGGAAGACTTTGAATTAGTAAACCCACACAGAGCCAGATTTTTA       c.7080
 N  G  I  L  T  W  E  D  F  E  L  V  N  P  H  R  A  R  F  L         p.2360

          .         .         .         .         .         .       g.105752
 AAAGAAATTAAAGACCTTGCTATCAAGAGGCGCCAAATTTTAAGCAACAAAGGTCTTTCT       c.7140
 K  E  I  K  D  L  A  I  K  R  R  Q  I  L  S  N  K  G  L  S         p.2380

          .         .         .         .         .         .       g.105812
 GAAGATGAGAAGAACACAAAATTACAGGAACTAGTGCTGAAGAATCCATCAGGTTCTGGG       c.7200
 E  D  E  K  N  T  K  L  Q  E  L  V  L  K  N  P  S  G  S  G         p.2400

          .         .       | 39 .         .         .         .    g.106849
 CCTCCACTTAGCATAGAGGATTTAGG | TTTAAATTTCCAGTTTTGCCCTTCCTCAAGAATA    c.7260
 P  P  L  S  I  E  D  L  G  |  L  N  F  Q  F  C  P  S  S  R  I      p.2420

          .         .         .         .      | 40  .         .    g.107022
 TATGGTTTTACAGCTGTGGATCTCAAGCCAAGTGGTGAAGATGAG | ATGATAACAATGGAT    c.7320
 Y  G  F  T  A  V  D  L  K  P  S  G  E  D  E   | M  I  T  M  D      p.2440

          .         .         .         .         .         .       g.107082
 AATGCAGAAGAATATGTGGATTTGATGTTTGACTTTTGTATGCATACGGGTATTCAGAAA       c.7380
 N  A  E  E  Y  V  D  L  M  F  D  F  C  M  H  T  G  I  Q  K         p.2460

          .          | 41        .         .         .         .    g.109458
 CAAATGGAAGCCTTTAGAG | ATGGGTTTAATAAAGTTTTTCCAATGGAGAAATTAAGTTCC    c.7440
 Q  M  E  A  F  R  D |   G  F  N  K  V  F  P  M  E  K  L  S  S      p.2480

          .         .         .         .         .         .       g.109518
 TTCAGCCATGAAGAAGTCCAAATGATTCTTTGTGGAAACCAGTCACCATCCTGGGCAGCA       c.7500
 F  S  H  E  E  V  Q  M  I  L  C  G  N  Q  S  P  S  W  A  A         p.2500

          .         .         .         .         . | 42       .    g.111169
 GAGGATATTATCAATTACACTGAACCTAAGCTGGGTTATACACGTGACAG | CCCTGGTTTC    c.7560
 E  D  I  I  N  Y  T  E  P  K  L  G  Y  T  R  D  S  |  P  G  F      p.2520

          .         .         .         .         .         .       g.111229
 CTGAGGTTTGTGAGGGTTTTATGTGGCATGTCTTCTGATGAAAGGAAAGCATTCTTGCAG       c.7620
 L  R  F  V  R  V  L  C  G  M  S  S  D  E  R  K  A  F  L  Q         p.2540

          .         .         .         .         .         .       g.111289
 TTTACCACTGGTTGTTCAACTCTACCCCCAGGTGGACTGGCTAACCTGCATCCCAGGCTC       c.7680
 F  T  T  G  C  S  T  L  P  P  G  G  L  A  N  L  H  P  R  L         p.2560

          .      | 43  .         .         .         .         .    g.111461
 ACGGTTGTACGCAAG | GTTGATGCTACTGATGCAAGCTATCCATCAGTCAATACATGTGTG    c.7740
 T  V  V  R  K   | V  D  A  T  D  A  S  Y  P  S  V  N  T  C  V      p.2580

          .         .         .         .         .         .       g.111521
 CATTACCTTAAGTTGCCTGAATATTCTTCCGAGGAGATCATGAGAGAGCGCCTGCTAGCT       c.7800
 H  Y  L  K  L  P  E  Y  S  S  E  E  I  M  R  E  R  L  L  A         p.2600

          .         .         .                                     g.111554
 GCTACAATGGAGAAAGGCTTTCATCTCAATTGA                                  c.7833
 A  T  M  E  K  G  F  H  L  N  X                                    p.2610

          .         .         .         .         .         .       g.111614
 gctttgaagtgcaatgggagacatcagagactttaaaaatactagtgaagcctcttgtgt       c.*60

          .         .         .         .         .         .       g.111674
 ttgtgtgcagagaagtatatgatccaccatgctaatgacacttgcctttttttccaccat       c.*120

          .         .         .         .         .         .       g.111734
 taaggctttaagaacatgtggaataagttttttagctgctaatgacaaaacaaatcctgt       c.*180

          .         .         .         .         .         .       g.111794
 aactacccagccagcaagtatatagcacagaacactgtgttactttacaagggcttatgt       c.*240

          .         .         .         .         .         .       g.111854
 gactggaataaggtggtcccacttgactgttccaaagagcagcttctcagatcttcagtg       c.*300

          .         .         .         .         .         .       g.111914
 ttcactggtaaatttctaacagtgtatttgtgtaaagtttgtcatttcatactccataca       c.*360

          .         .         .         .         .         .       g.111974
 ctacagttgctgtcactgatccctgttttgctggcttttaagctacttggtcaaaaatcc       c.*420

          .         .         .         .         .         .       g.112034
 tgcttccttaaaacatagagaattaatgagcatctcaagctttttcttttcctttttaat       c.*480

          .         .         .         .         .         .       g.112094
 gatgcctgcactatcaagagtattctagtgttctctctttgtttggcatataatcatgca       c.*540

          .         .         .         .         .         .       g.112154
 ccaaactttttatttctttaaggtgggagtatatttttatttcctaaatgccatactatg       c.*600

          .         .         .         .         .         .       g.112214
 aagatcaaagtcttaagtgtgtttgcagctcaaaaataaagatgtattaaggggggaaaa       c.*660

          .         .         .         .         .         .       g.112274
 cctggtctaagtgcaaggcacacttacagcgagttttactttcggttgtattttctttgt       c.*720

          .         .         .         .         .         .       g.112334
 atattataaacatttatttaacttgttgccgtttgaagtaaaaaatttccaaaatgtatg       c.*780

          .         .         .                                     g.112366
 ctcaacaataatcattaaaatgtttgcagcgt                                   c.*812

 (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 HECT domain containing E3 ubiquitin protein ligase 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.

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