ubiquitin protein ligase E3 component n-recognin 1 (UBR1) - coding DNA reference sequence

(used for variant description)

(last modified June 12, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_174916.2 in the UBR1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012182.1, covering UBR1 transcript NM_174916.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5006
                                                       ccggcc       c.-61

 .         .         .         .         .         .                g.5066
 acaggtttccgcttgcctctggccgggggtcggcaactgcaggcgtcagtttccctcaag       c.-1

          .         .         .         .         .         .       g.5126
 ATGGCGGACGAGGAGGCTGGAGGTACTGAGAGGATGGAAATCAGCGCGGAGTTACCCCAG       c.60
 M  A  D  E  E  A  G  G  T  E  R  M  E  I  S  A  E  L  P  Q         p.20

          .         .  | 02      .         .         .         .    g.24887
 ACCCCTCAGCGTCTGGCATCT | TGGTGGGATCAGCAAGTTGATTTTTATACTGCTTTCTTG    c.120
 T  P  Q  R  L  A  S   | W  W  D  Q  Q  V  D  F  Y  T  A  F  L      p.40

          .         .         .         .         .         .       g.24947
 CATCATTTGGCACAATTGGTGCCAGAAATTTACTTTGCTGAAATGGACCCAGACTTGGAA       c.180
 H  H  L  A  Q  L  V  P  E  I  Y  F  A  E  M  D  P  D  L  E         p.60

          .         .         .         .         .         .       g.25007
 AAGCAGGAGGAAAGTGTACAAATGTCAATATTCACTCCACTGGAATGGTACTTATTTGGA       c.240
 K  Q  E  E  S  V  Q  M  S  I  F  T  P  L  E  W  Y  L  F  G         p.80

          .         .         .         .         .         .       g.25067
 GAAGATCCAGATATTTGCTTAGAGAAATTGAAGCACAGTGGAGCATTTCAGCTTTGTGGG       c.300
 E  D  P  D  I  C  L  E  K  L  K  H  S  G  A  F  Q  L  C  G         p.100

          .         .         .         | 03         .         .    g.28394
 AGGGTTTTCAAAAGTGGAGAGACAACCTATTCTTGCAG | GGATTGTGCAATTGATCCAACA    c.360
 R  V  F  K  S  G  E  T  T  Y  S  C  R  |  D  C  A  I  D  P  T      p.120

          .         .         .         .         .        | 04.    g.36002
 TGTGTACTCTGTATGGACTGCTTCCAGGACAGTGTTCATAAAAATCATCGTTACAAG | ATG    c.420
 C  V  L  C  M  D  C  F  Q  D  S  V  H  K  N  H  R  Y  K   | M      p.140

          .         .         .         .         .         .       g.36062
 CATACTTCTACTGGAGGAGGGTTCTGTGACTGTGGAGACACAGAGGCATGGAAAACTGGC       c.480
 H  T  S  T  G  G  G  F  C  D  C  G  D  T  E  A  W  K  T  G         p.160

          .         .         .         .         | 05         .    g.40175
 CCTTTTTGTGTAAATCATGAACCTGGAAGAGCAGGTACTATAAAAGAG | AATTCACGCTGT    c.540
 P  F  C  V  N  H  E  P  G  R  A  G  T  I  K  E   | N  S  R  C      p.180

          .         .         .         .         .         .       g.40235
 CCGTTGAATGAAGAGGTAATTGTCCAAGCCAGGAAAATATTTCCTTCAGTGATAAAATAT       c.600
 P  L  N  E  E  V  I  V  Q  A  R  K  I  F  P  S  V  I  K  Y         p.200

          .         .         .         .         .          | 06    g.43053
 GTCGTAGAAATGACTATATGGGAAGAGGAAAAAGAACTGCCTCCTGAACTCCAGATAAG | G    c.660
 V  V  E  M  T  I  W  E  E  E  K  E  L  P  P  E  L  Q  I  R  |      p.220

          .         .         .         .         .         .       g.43113
 GAGAAAAATGAAAGATACTATTGTGTCCTTTTCAATGATGAACACCATTCATATGACCAC       c.720
 E  K  N  E  R  Y  Y  C  V  L  F  N  D  E  H  H  S  Y  D  H         p.240

          .         .         .         .         .         .       g.43173
 GTCATATACAGCCTACAAAGAGCTCTTGACTGTGAGCTCGCAGAGGCCCAGTTGCATACC       c.780
 V  I  Y  S  L  Q  R  A  L  D  C  E  L  A  E  A  Q  L  H  T         p.260

          .         | 07         .         .         .         .    g.51016
 ACTGCCATTGACAAAGAG | GGTCGTCGGGCTGTTAAAGCGGGAGCTTATGCTGCTTGCCAG    c.840
 T  A  I  D  K  E   | G  R  R  A  V  K  A  G  A  Y  A  A  C  Q      p.280

          .         .  | 08      .         .         .         .    g.51302
 GAAGCAAAGGAAGATATAAAG | AGTCATTCAGAAAATGTCTCTCAACATCCACTTCATGTA    c.900
 E  A  K  E  D  I  K   | S  H  S  E  N  V  S  Q  H  P  L  H  V      p.300

          .         .         .         .         .         .       g.51362
 GAAGTATTACACTCAGAGATTATGGCTCATCAGAAATTTGCTTTGCGTCTTGGTTCCTGG       c.960
 E  V  L  H  S  E  I  M  A  H  Q  K  F  A  L  R  L  G  S  W         p.320

          .         .      | 09  .         .         .         .    g.51931
 ATGAACAAAATTATGAGCTATTCAA | GTGACTTTAGGCAGATCTTTTGCCAAGCATGCCTT    c.1020
 M  N  K  I  M  S  Y  S  S |   D  F  R  Q  I  F  C  Q  A  C  L      p.340

          .         .         .         .         .         .       g.51991
 AGAGAAGAACCTGACTCGGAGAATCCCTGTCTCATAAGCAGGTTAATGCTTTGGGATGCA       c.1080
 R  E  E  P  D  S  E  N  P  C  L  I  S  R  L  M  L  W  D  A         p.360

          .    | 10    .         .         .         .         .    g.52706
 AAGCTTTATAAAG | GTGCCCGTAAGATCCTTCATGAATTGATCTTCAGCAGTTTTTTTATG    c.1140
 K  L  Y  K  G |   A  R  K  I  L  H  E  L  I  F  S  S  F  F  M      p.380

          .         .         .         .   | 11     .         .    g.54664
 GAGATGGAATACAAAAAACTCTTTGCTATGGAATTTGTGAAG | TATTATAAACAACTGCAG    c.1200
 E  M  E  Y  K  K  L  F  A  M  E  F  V  K   | Y  Y  K  Q  L  Q      p.400

          .         .         .         .         .         .       g.54724
 AAAGAATATATCAGTGATGATCATGACAGAAGTATCTCTATAACTGCACTTTCAGTTCAG       c.1260
 K  E  Y  I  S  D  D  H  D  R  S  I  S  I  T  A  L  S  V  Q         p.420

          .         .  | 12      .         .         .         .    g.56228
 ATGTTTACTGTTCCTACTCTG | GCTCGACATCTTATTGAAGAGCAGAATGTTATCTCTGTC    c.1320
 M  F  T  V  P  T  L   | A  R  H  L  I  E  E  Q  N  V  I  S  V      p.440

          .         .         .         .         .         .       g.56288
 ATTACTGAAACTCTGCTAGAAGTTTTACCTGAGTACTTGGACAGGAACAATAAATTCAAC       c.1380
 I  T  E  T  L  L  E  V  L  P  E  Y  L  D  R  N  N  K  F  N         p.460

          .         .         .         .         .          | 13    g.62598
 TTCCAGGGTTATAGCCAGGACAAATTGGGAAGAGTATATGCAGTAATATGTGACCTAAA | G    c.1440
 F  Q  G  Y  S  Q  D  K  L  G  R  V  Y  A  V  I  C  D  L  K  |      p.480

          .         .         .         .         .         .       g.62658
 TATATCCTGATCAGCAAACCCACAATATGGACAGAAAGATTAAGAATGCAGTTCCTTGAA       c.1500
 Y  I  L  I  S  K  P  T  I  W  T  E  R  L  R  M  Q  F  L  E         p.500

          .         .         .          | 14        .         .    g.63820
 GGTTTTCGATCTTTTTTGAAGATTCTTACCTGTATGCAG | GGAATGGAAGAAATCCGAAGA    c.1560
 G  F  R  S  F  L  K  I  L  T  C  M  Q   | G  M  E  E  I  R  R      p.520

          .         .         .         .         .         .       g.63880
 CAGGTTGGGCAACACATTGAAGTGGATCCTGATTGGGAGGCTGCCATTGCTATACAGATG       c.1620
 Q  V  G  Q  H  I  E  V  D  P  D  W  E  A  A  I  A  I  Q  M         p.540

          .         .         .         .         | 15         .    g.67705
 CAATTGAAGAATATTTTACTCATGTTCCAAGAGTGGTGTGCTTGTGAT | GAAGAACTCTTA    c.1680
 Q  L  K  N  I  L  L  M  F  Q  E  W  C  A  C  D   | E  E  L  L      p.560

          .         .         .         .         .         .       g.67765
 CTTGTGGCTTATAAAGAATGTCACAAAGCTGTGATGAGGTGCAGTACCAGTTTCATATCT       c.1740
 L  V  A  Y  K  E  C  H  K  A  V  M  R  C  S  T  S  F  I  S         p.580

          .         .         .         .         .         .       g.67825
 AGTAGCAAGACAGTAGTACAATCGTGTGGACATAGTTTGGAAACAAAGTCCTACAGAGTA       c.1800
 S  S  K  T  V  V  Q  S  C  G  H  S  L  E  T  K  S  Y  R  V         p.600

          .         .         .         .          | 16        .    g.72867
 TCTGAGGATCTTGTAAGCATACATCTGCCACTCTCTAGGACCCTTGCTG | GTCTTCATGTA    c.1860
 S  E  D  L  V  S  I  H  L  P  L  S  R  T  L  A  G |   L  H  V      p.620

          .         .         .         .         .  | 17      .    g.73214
 CGTTTAAGCAGGCTGGGTGCTGTTTCAAGACTGCATGAATTTGTGTCTTTT | GAGGACTTT    c.1920
 R  L  S  R  L  G  A  V  S  R  L  H  E  F  V  S  F   | E  D  F      p.640

          .         .         .         .         .         .       g.73274
 CAAGTAGAGGTACTAGTGGAATATCCTTTACGTTGTCTGGTGTTGGTTGCCCAGGTTGTT       c.1980
 Q  V  E  V  L  V  E  Y  P  L  R  C  L  V  L  V  A  Q  V  V         p.660

          .         .         .         .   | 18     .         .    g.74513
 GCTGAGATGTGGCGAAGAAATGGACTGTCTCTTATTAGCCAG | GTGTTTTATTACCAAGAT    c.2040
 A  E  M  W  R  R  N  G  L  S  L  I  S  Q   | V  F  Y  Y  Q  D      p.680

          .         .         .         .         | 19         .    g.74821
 GTTAAGTGCAGAGAAGAAATGTATGATAAAGATATCATCATGCTTCAG | ATTGGTGCATCT    c.2100
 V  K  C  R  E  E  M  Y  D  K  D  I  I  M  L  Q   | I  G  A  S      p.700

          .         .         .         .         .         .       g.74881
 TTAATGGATCCCAATAAGTTCTTGTTACTGGTACTTCAGAGGTATGAACTTGCCGAGGCT       c.2160
 L  M  D  P  N  K  F  L  L  L  V  L  Q  R  Y  E  L  A  E  A         p.720

          .         .         . | 20       .         .         .    g.78487
 TTTAACAAGACCATATCTACAAAAGACCAG | GATTTGATTAAACAATATAATACACTAATA    c.2220
 F  N  K  T  I  S  T  K  D  Q   | D  L  I  K  Q  Y  N  T  L  I      p.740

          .         .         .     | 21   .         .         .    g.81046
 GAAGAAATGCTTCAGGTCCTCATCTATATTGTGG | GTGAGCGTTATGTACCTGGAGTGGGA    c.2280
 E  E  M  L  Q  V  L  I  Y  I  V  G |   E  R  Y  V  P  G  V  G      p.760

          .         .         .         .         .         .       g.81106
 AATGTGACCAAAGAAGAGGTCACAATGAGAGAAATCATTCACTTGCTTTGCATTGAACCC       c.2340
 N  V  T  K  E  E  V  T  M  R  E  I  I  H  L  L  C  I  E  P         p.780

          .         .         .          | 22        .         .    g.83281
 ATGCCACACAGTGCCATTGCCAAAAATTTACCTGAGAAT | GAAAATAATGAAACTGGCTTA    c.2400
 M  P  H  S  A  I  A  K  N  L  P  E  N   | E  N  N  E  T  G  L      p.800

          .         .         .   | 23     .         .         .    g.84453
 GAGAATGTCATAAACAAAGTGGCCACATTTAA | GAAACCAGGTGTATCAGGCCATGGAGTT    c.2460
 E  N  V  I  N  K  V  A  T  F  K  |  K  P  G  V  S  G  H  G  V      p.820

          .         .         .         .         .         .       g.84513
 TATGAACTAAAAGATGAATCACTGAAAGACTTCAATATGTACTTTTATCATTACTCCAAA       c.2520
 Y  E  L  K  D  E  S  L  K  D  F  N  M  Y  F  Y  H  Y  S  K         p.840

          .      | 24  .         .         .         .         .    g.85704
 ACCCAGCATAGCAAG | GCTGAACATATGCAGAAGAAAAGGAGAAAACAAGAAAACAAAGAT    c.2580
 T  Q  H  S  K   | A  E  H  M  Q  K  K  R  R  K  Q  E  N  K  D      p.860

      | 25   .         .         .         .         .         .    g.86161
 GAAG | CATTGCCGCCACCACCACCTCCTGAATTCTGCCCTGCTTTCAGCAAAGTGATTAAC    c.2640
 E  A |   L  P  P  P  P  P  P  E  F  C  P  A  F  S  K  V  I  N      p.880

          .         .         .         .         .         .       g.86221
 CTTCTCAACTGTGATATCATGATGTACATTCTCAGGACCGTATTTGAGCGGGCAATAGAC       c.2700
 L  L  N  C  D  I  M  M  Y  I  L  R  T  V  F  E  R  A  I  D         p.900

          .         .         .          | 26        .         .    g.88308
 ACAGATTCTAACTTGTGGACCGAAGGGATGCTCCAAATG | GCTTTTCATATTCTGGCATTG    c.2760
 T  D  S  N  L  W  T  E  G  M  L  Q  M   | A  F  H  I  L  A  L      p.920

          .         .         .         .         .         .       g.88368
 GGTTTACTAGAAGAGAAGCAACAGCTTCAAAAAGCTCCTGAAGAAGAAGTAACATTTGAC       c.2820
 G  L  L  E  E  K  Q  Q  L  Q  K  A  P  E  E  E  V  T  F  D         p.940

          .          | 27        .         .         .         .    g.89754
 TTTTATCATAAGGCTTCAA | GATTGGGAAGTTCAGCCATGAATATACAAATGCTTTTGGAA    c.2880
 F  Y  H  K  A  S  R |   L  G  S  S  A  M  N  I  Q  M  L  L  E      p.960

          .         .         .         .         .         .       g.89814
 AAACTCAAAGGAATTCCCCAGTTAGAAGGCCAGAAGGACATGATAACGTGGATACTTCAG       c.2940
 K  L  K  G  I  P  Q  L  E  G  Q  K  D  M  I  T  W  I  L  Q         p.980

  | 28       .         .         .         .         .         .    g.93967
  | ATGTTTGACACAGTGAAGCGATTAAGAGAAAAATCTTGTTTAATTGTAGCAACCACATCA    c.3000
  | M  F  D  T  V  K  R  L  R  E  K  S  C  L  I  V  A  T  T  S      p.1000

          .         .        | 29.         .         .         .    g.95252
 GGATCGGAATCTATTAAGAATGATGAG | ATTACTCATGATAAAGAAAAAGCAGAACGAAAA    c.3060
 G  S  E  S  I  K  N  D  E   | I  T  H  D  K  E  K  A  E  R  K      p.1020

          .         .         .         .         .         .       g.95312
 AGAAAAGCTGAAGCTGCTAGGCTACATCGCCAGAAGATCATGGCTCAGATGTCTGCCTTA       c.3120
 R  K  A  E  A  A  R  L  H  R  Q  K  I  M  A  Q  M  S  A  L         p.1040

          .         .         .         .         .         .       g.95372
 CAGAAAAACTTCATTGAAACTCATAAACTCATGTATGACAATACATCAGAAATGCCTGGG       c.3180
 Q  K  N  F  I  E  T  H  K  L  M  Y  D  N  T  S  E  M  P  G         p.1060

          .         .          | 30        .         .         .    g.103835
 AAAGAAGATTCCATTATGGAGGAAGAGAG | CACCCCAGCAGTCAGTGACTACTCTAGAATT    c.3240
 K  E  D  S  I  M  E  E  E  S  |  T  P  A  V  S  D  Y  S  R  I      p.1080

          .         .         .         .         .         .       g.103895
 GCTTTGGGTCCTAAACGGGGTCCATCTGTTACTGAAAAGGAGGTGCTGACGTGCATCCTT       c.3300
 A  L  G  P  K  R  G  P  S  V  T  E  K  E  V  L  T  C  I  L         p.1100

          .         .         .         .         .         .       g.103955
 TGCCAAGAAGAACAGGAGGTGAAAATAGAAAATAATGCCATGGTATTATCGGCCTGTGTC       c.3360
 C  Q  E  E  Q  E  V  K  I  E  N  N  A  M  V  L  S  A  C  V         p.1120

          .         .         .         .         .      | 31  .    g.107163
 CAGAAATCTACTGCCTTAACCCAGCACAGGGGAAAACCCATAGAACTCTCAGGAG | AAGCC    c.3420
 Q  K  S  T  A  L  T  Q  H  R  G  K  P  I  E  L  S  G  E |   A      p.1140

          .         .         .         .         .         .       g.107223
 CTAGACCCACTTTTCATGGATCCAGACTTGGCATATGGAACTTATACAGGAAGCTGTGGT       c.3480
 L  D  P  L  F  M  D  P  D  L  A  Y  G  T  Y  T  G  S  C  G         p.1160

          .         .          | 32        .         .         .    g.108415
 CATGTAATGCACGCAGTGTGCTGGCAGAA | GTATTTTGAAGCTGTACAGCTGAGCTCTCAG    c.3540
 H  V  M  H  A  V  C  W  Q  K  |  Y  F  E  A  V  Q  L  S  S  Q      p.1180

          .         .         .         .         .         .       g.108475
 CAGCGCATTCATGTTGACCTTTTTGACTTGGAAAGTGGAGAATATCTTTGCCCTCTTTGC       c.3600
 Q  R  I  H  V  D  L  F  D  L  E  S  G  E  Y  L  C  P  L  C         p.1200

          .         .         .         .         .          | 33    g.112824
 AAATCTCTGTGCAATACTGTGATCCCCATTATTCCTTTGCAACCTCAAAAGATAAACAG | T    c.3660
 K  S  L  C  N  T  V  I  P  I  I  P  L  Q  P  Q  K  I  N  S  |      p.1220

          .         .         .         .         .         .       g.112884
 GAGAATGCAGATGCTCTTGCTCAACTTTTGACCCTGGCACGGTGGATACAGACTGTTCTG       c.3720
 E  N  A  D  A  L  A  Q  L  L  T  L  A  R  W  I  Q  T  V  L         p.1240

          .         .         .        | 34.         .         .    g.120991
 GCCAGAATATCAGGTTATAATATAAGACATGCTAAAG | GAGAAAACCCAATTCCTATTTTC    c.3780
 A  R  I  S  G  Y  N  I  R  H  A  K  G |   E  N  P  I  P  I  F      p.1260

          .         .         .         .         .         .       g.121051
 TTTAATCAAGGAATGGGAGATTCTACTTTGGAGTTCCATTCCATCCTGAGTTTTGGCGTT       c.3840
 F  N  Q  G  M  G  D  S  T  L  E  F  H  S  I  L  S  F  G  V         p.1280

          | 35         .         .         .         .         .    g.122173
 GAGTCTTC | GATTAAATATTCAAATAGCATCAAGGAAATGGTTATTCTCTTTGCCACAACA    c.3900
 E  S  S  |  I  K  Y  S  N  S  I  K  E  M  V  I  L  F  A  T  T      p.1300

          .         .         .         .         .         .       g.122233
 ATTTATAGAATTGGATTGAAAGTGCCACCTGATGAAAGGGATCCTCGAGTCCCCATGCTG       c.3960
 I  Y  R  I  G  L  K  V  P  P  D  E  R  D  P  R  V  P  M  L         p.1320

          .         .         .        | 36.         .         .    g.126169
 ACCTGGAGCACCTGCGCTTTCACTATCCAGGCAATTG | AAAATCTATTGGGAGATGAAGGA    c.4020
 T  W  S  T  C  A  F  T  I  Q  A  I  E |   N  L  L  G  D  E  G      p.1340

          .         .         .    | 37    .         .         .    g.127122
 AAACCTCTGTTTGGAGCACTTCAAAATAGGCAG | CATAATGGTCTGAAAGCATTAATGCAG    c.4080
 K  P  L  F  G  A  L  Q  N  R  Q   | H  N  G  L  K  A  L  M  Q      p.1360

          .         .         .         .         .         .       g.127182
 TTTGCAGTTGCACAGAGGATTACCTGTCCTCAGGTCCTGATACAGAAACATCTGGTTCGT       c.4140
 F  A  V  A  Q  R  I  T  C  P  Q  V  L  I  Q  K  H  L  V  R         p.1380

          . | 38       .         .         .         .         .    g.133191
 CTTCTATCAG | TTGTTCTTCCTAACATAAAATCAGAAGATACACCATGCCTTCTGTCTATA    c.4200
 L  L  S  V |   V  L  P  N  I  K  S  E  D  T  P  C  L  L  S  I      p.1400

          .         | 39         .         .         .         .    g.134263
 GATCTGTTTCATGTTTTG | GTGGGTGCTGTGTTAGCATTCCCATCCTTGTATTGGGATGAC    c.4260
 D  L  F  H  V  L   | V  G  A  V  L  A  F  P  S  L  Y  W  D  D      p.1420

          .         .         .         .         .         .       g.134323
 CCTGTTGATCTGCAGCCTTCTTCAGTTAGTTCTTCCTATAACCACCTTTATCTCTTCCAT       c.4320
 P  V  D  L  Q  P  S  S  V  S  S  S  Y  N  H  L  Y  L  F  H         p.1440

          .         .         .         .          | 40        .    g.140492
 TTGATCACCATGGCACACATGCTTCAGATACTACTTACAGTAGACACAG | GCCTACCCCTT    c.4380
 L  I  T  M  A  H  M  L  Q  I  L  L  T  V  D  T  G |   L  P  L      p.1460

          .         .         .         .         .         .       g.140552
 GCTCAGGTTCAAGAAGACAGTGAAGAGGCTCATTCCGCATCTTCTTTCTTTGCAGAAATT       c.4440
 A  Q  V  Q  E  D  S  E  E  A  H  S  A  S  S  F  F  A  E  I         p.1480

          .        | 41.         .         .         .         .    g.144845
 TCTCAATATACAAGTGG | CTCCATTGGGTGTGATATTCCTGGCTGGTATTTGTGGGTCTCA    c.4500
 S  Q  Y  T  S  G  |  S  I  G  C  D  I  P  G  W  Y  L  W  V  S      p.1500

          .         .         .         .         .         .       g.144905
 CTGAAGAATGGCATCACCCCTTATCTTCGCTGTGCTGCATTGTTTTTCCACTATTTACTT       c.4560
 L  K  N  G  I  T  P  Y  L  R  C  A  A  L  F  F  H  Y  L  L         p.1520

          .         .         .  | 42      .         .         .    g.147074
 GGGGTAACTCCGCCTGAGGAACTGCATACCA | ATTCTGCAGAAGGAGAGTACAGTGCACTC    c.4620
 G  V  T  P  P  E  E  L  H  T  N |   S  A  E  G  E  Y  S  A  L      p.1540

          .         .         .         .         .         .       g.147134
 TGTAGCTATCTATCTTTACCTACAAATTTGTTCCTGCTCTTCCAGGAATATTGGGATACT       c.4680
 C  S  Y  L  S  L  P  T  N  L  F  L  L  F  Q  E  Y  W  D  T         p.1560

          .         . | 43       .         .         .         .    g.150427
 GTAAGGCCCTTGCTCCAGAG | GTGGTGTGCAGATCCTGCCTTACTAAACTGTTTGAAGCAA    c.4740
 V  R  P  L  L  Q  R  |  W  C  A  D  P  A  L  L  N  C  L  K  Q      p.1580

          .        | 44.         .         .         .         .    g.153041
 AAAAACACCGTGGTCAG | GTACCCTAGAAAAAGAAATAGTTTGATAGAGCTTCCTGATGAC    c.4800
 K  N  T  V  V  R  |  Y  P  R  K  R  N  S  L  I  E  L  P  D  D      p.1600

          .         .         .      | 45  .         .         .    g.158665
 TATAGCTGCCTCCTGAATCAAGCTTCTCATTTCAG | GTGCCCACGGTCTGCAGATGATGAG    c.4860
 Y  S  C  L  L  N  Q  A  S  H  F  R  |  C  P  R  S  A  D  D  E      p.1620

          .         .         .         .         .         .       g.158725
 CGAAAGCATCCTGTCCTCTGCCTTTTCTGTGGGGCTATACTATGTTCTCAGAACATTTGC       c.4920
 R  K  H  P  V  L  C  L  F  C  G  A  I  L  C  S  Q  N  I  C         p.1640

          .         .         .         .         .         .       g.158785
 TGCCAGGAAATTGTGAACGGGGAAGAGGTTGGAGCTTGCATTTTTCACGCACTTCACTGT       c.4980
 C  Q  E  I  V  N  G  E  E  V  G  A  C  I  F  H  A  L  H  C         p.1660

          .         .       | 46 .         .         .         .    g.160759
 GGAGCCGGAGTCTGCATTTTCCTAAA | AATCAGAGAATGCCGAGTGGTCCTGGTTGAAGGT    c.5040
 G  A  G  V  C  I  F  L  K  |  I  R  E  C  R  V  V  L  V  E  G      p.1680

          .         .         .         .         .         .       g.160819
 AAAGCCAGAGGCTGTGCCTATCCAGCTCCTTACTTGGATGAATATGGAGAAACAGACCCT       c.5100
 K  A  R  G  C  A  Y  P  A  P  Y  L  D  E  Y  G  E  T  D  P         p.1700

          | 47         .         .         .         .         .    g.165670
 GGCCTGAA | GAGGGGCAACCCCCTTCATTTATCTCGTGAGCGGTATCGGAAGCTCCATTTG    c.5160
 G  L  K  |  R  G  N  P  L  H  L  S  R  E  R  Y  R  K  L  H  L      p.1720

          .         .         .         .         .         .       g.165730
 GTCTGGCAACAACACTGCATTATAGAAGAGATTGCTAGGAGCCAAGAGACTAATCAGATG       c.5220
 V  W  Q  Q  H  C  I  I  E  E  I  A  R  S  Q  E  T  N  Q  M         p.1740

          .         .         .                                     g.165760
 TTATTTGGATTCAACTGGCAGTTACTGTGA                                     c.5250
 L  F  G  F  N  W  Q  L  L  X                                       p.1749

          .         .         .         .         .         .       g.165820
 gctccaactctgcctcaagacaatcacaaatgacgacagtagtaaaggctgattcaaaat       c.*60

          .         .         .         .         .         .       g.165880
 tatggaaaactttctgagggctgggaaagtattggagggtcttttgctccatgtccaggt       c.*120

          .         .         .         .         .         .       g.165940
 tcacttacatcaataaaatatttcttaatggagtattgctttcaattagcaaacatatgc       c.*180

          .         .         .         .         .         .       g.166000
 ttcacaggaaaaaaggacatagatcaatctgttttatgtgctagtatttccaggaattta       c.*240

          .         .         .         .         .         .       g.166060
 ttccccttcataatttgtctcatttcattttatttcatccacttggtagatgaagtcacg       c.*300

          .         .         .         .         .         .       g.166120
 tcaaacagttgtagacattttatatgttggttaactcttctgcaattttgtatttggtgt       c.*360

          .         .         .         .         .         .       g.166180
 tttccccccaagtttagttcaactgacattggatcactgacaaaattctaataatctgtg       c.*420

          .         .         .         .         .         .       g.166240
 atagtcttccttgcagttaaagaagaattgcagaaaccatgcaatatacttgggaaagat       c.*480

          .         .         .         .         .         .       g.166300
 tccaaaaataaattttttattatttctcttttaaggaaatacccctaatgtgccacctgc       c.*540

          .         .         .         .         .         .       g.166360
 tgctatcaccacaaattaaactcaatctctatgtggacagaggatgatttctgccaatat       c.*600

          .         .         .         .         .         .       g.166420
 ggaaaagcttttttctcactgtaggcctcaagaaaagttagggtaatgtatttgttattc       c.*660

          .         .         .         .         .         .       g.166480
 attcctgacggtacaaagagcttgcagttctcacctctgactaccagtagctttgttgag       c.*720

          .         .         .         .         .         .       g.166540
 ttttgaaataatacttgacattttccaaaggcaaatctcattctgcaaggagattgtggc       c.*780

          .         .         .         .         .         .       g.166600
 accatcctgtttgactctcagaaacctcttgtaattctgatgtaaaaactgtagaatgaa       c.*840

          .         .         .         .         .         .       g.166660
 gatgagaaaattctcgcaatgagtggatcatgacaactgtaaattagaacaatcagattt       c.*900

          .         .         .         .         .         .       g.166720
 aaaccaattccgcagtcttctatatctttgtaaaagacaaatccttgatgttgtctgtgt       c.*960

          .         .         .         .         .         .       g.166780
 gcaaccttttcataaactctggttttatgactagtacaaaccaccaaaaaagccatgtga       c.*1020

          .         .         .         .         .         .       g.166840
 tcaatagtctgtgtcctgttataacatgctgtggttgagccatcttgtttataaataata       c.*1080

          .         .         .         .         .         .       g.166900
 gagctctcctgaatttgtgcatagacttcttggttcctggcttttgttttttgtatcaag       c.*1140

          .         .         .         .         .         .       g.166960
 agattgtgatataaaacagcagaagataaatggaaaccttccattttaacttacgttgtt       c.*1200

          .         .         .         .         .         .       g.167020
 tctggggtaatgttagaaccttgaaagatgcattcaaagactgtatcttattttgccctt       c.*1260

          .         .         .         .         .         .       g.167080
 ggctattagtgtctcacatatgtgtgtaaatgttttcctaccttctttttgctcagcaaa       c.*1320

          .         .         .         .         .         .       g.167140
 ggcaagcaagtaaaatatatttgctaagtgattagtgatgcacatttggggctagatttt       c.*1380

          .         .         .         .         .         .       g.167200
 tttggtacttttatgtaaagaaaagtggattttgcagtaagggattggcatgagcaggcg       c.*1440

          .         .         .         .         .         .       g.167260
 tcagaatcacaatcatgattttctacttgaataattacaattcagaaggtatctggataa       c.*1500

          .         .         .         .         .         .       g.167320
 atagatacatgtctagtgaacaatttgtaacaataacaggtaaggatcaggaaattcagt       c.*1560

          .         .         .         .         .         .       g.167380
 attcagtttgtcagatttgccagaatgatgaaagtatttgaacatgtgtgtttgtttctt       c.*1620

          .         .         .         .         .         .       g.167440
 atataattgtattgagtggattgtttgactgggaaatctgggctagaataggaaacagaa       c.*1680

          .         .         .         .         .         .       g.167500
 gatactgacttctaccctaatagatgggccccaatttagcaaagataaactgactttatt       c.*1740

          .         .         .         .         .         .       g.167560
 tttagtcctttttatattaacttaataaattctggagttaggctctcaagaggacagagg       c.*1800

          .         .         .         .         .         .       g.167620
 gactgtctggcaatggccagccagacctttactgccaaagaacccatttcatattgcgtt       c.*1860

          .         .         .         .         .         .       g.167680
 ccactgattgagattgattcagatttttgcactgtagatgagcgtatgtctcagtgctgc       c.*1920

          .         .         .         .         .         .       g.167740
 cccaagccccagggatttctcattatgttcaaatgtcctagtgatttaccttaatcattg       c.*1980

          .         .         .         .         .         .       g.167800
 caaacaattatgcttatgaagtttacttacaaacaagcaactgagtcactttattttctt       c.*2040

          .         .         .         .         .         .       g.167860
 tagtgtagtatgtgaaggcactggttcaacaggatggctccagaactgtgtttttctaat       c.*2100

          .         .         .         .         .         .       g.167920
 gtttggtaaggggctagtgagaattttaatgatatggtgaagaaaaatatatctgtataa       c.*2160

          .         .         .         .         .         .       g.167980
 ttaatttattatattggtgtatgggctgtgagttcaccttttagtggtcatttgtcattt       c.*2220

          .         .         .         .         .         .       g.168040
 cataacaactatgcattttggttcactgtgatgatgatctatatttagtgactgcaacat       c.*2280

          .         .         .         .         .         .       g.168100
 gtttataccactgattcaaattccatccatgatgaagttatacaaataatgcatatattg       c.*2340

          .         .         .         .         .         .       g.168160
 ataacttttattgcaaaaatgtaaatttaaaacttgtataatgttcttgtgctttttaaa       c.*2400

          .         .         .                                     g.168192
 ataaaatatatgtgtatatttaaaaagaaaaa                                   c.*2432

 (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 Ubiquitin protein ligase E3 component n-recognin 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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