mindbomb E3 ubiquitin protein ligase 1 (MIB1) - coding DNA reference sequence

(used for variant description)

(last modified November 27, 2015)


This file was created to facilitate the description of sequence variants on transcript NM_020774.3 in the MIB1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000018.9, covering MIB1 transcript NM_020774.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.4760
                                              tccgccgccgcctcc       c.-241

 .         .         .         .         .         .                g.4820
 gagcagccgcgggccgccctccactccgagcggggggcgcggcggcgacagctgggcagc       c.-181

 .         .         .         .         .         .                g.4880
 ggctttgggctccgcggggaccgcgccgccgcccccgtgagttattctcacgtcccccgg       c.-121

 .         .         .         .         .         .                g.4940
 ggctcgctgccgcccccgccgacgcctagagtccggcccgggcccaactccctcacgggc       c.-61

 .         .         .         .         .         .                g.5000
 cccccggcggcagcggcggcggcggcggcggcagcggcggagcccaccgcccgggccccg       c.-1

          .         .         .         .         .         .       g.5060
 ATGAGTAACTCCCGGAATAACCGGGTGATGGTGGAAGGGGTTGGCGCTCGGGTAGTGCGC       c.60
 M  S  N  S  R  N  N  R  V  M  V  E  G  V  G  A  R  V  V  R         p.20

          .         .         .         .         .         .       g.5120
 GGCCCGGACTGGAAGTGGGGGAAGCAGGACGGCGGCGAGGGCCATGTGGGCACCGTCCGG       c.120
 G  P  D  W  K  W  G  K  Q  D  G  G  E  G  H  V  G  T  V  R         p.40

          .         .         .         .         .         .       g.5180
 AGCTTCGAGAGCCCCGAGGAGGTGGTGGTAGTGTGGGACAACGGCACAGCTGCCAACTAC       c.180
 S  F  E  S  P  E  E  V  V  V  V  W  D  N  G  T  A  A  N  Y         p.60

          .         .         .         .          | 02        .    g.29199
 CGCTGCTCCGGGGCTTACGACCTCCGCATCCTGGACAGCGCGCCCACCG | GCATCAAGCAT    c.240
 R  C  S  G  A  Y  D  L  R  I  L  D  S  A  P  T  G |   I  K  H      p.80

          .         .         .         .         .         .       g.29259
 GATGGAACCATGTGTGATACCTGCCGCCAGCAACCAATCATTGGCATTCGATGGAAGTGT       c.300
 D  G  T  M  C  D  T  C  R  Q  Q  P  I  I  G  I  R  W  K  C         p.100

          .         .         .         .         .         .       g.29319
 GCAGAGTGTACAAATTATGATTTGTGCACAGTGTGTTATCATGGAGATAAACATCATTTA       c.360
 A  E  C  T  N  Y  D  L  C  T  V  C  Y  H  G  D  K  H  H  L         p.120

          .         .         .         .  | 03      .         .    g.32058
 AGACATCGCTTTTACCGAATTACTACACCGGGAAGTGAGAG | GGTTCTGTTAGAGTCTCGT    c.420
 R  H  R  F  Y  R  I  T  T  P  G  S  E  R  |  V  L  L  E  S  R      p.140

          .         .         .         .         .         .       g.32118
 AGGAAATCTAAGAAGATTACAGCCAGAGGAATCTTTGCAGGTGCCAGAGTGGTGCGAGGA       c.480
 R  K  S  K  K  I  T  A  R  G  I  F  A  G  A  R  V  V  R  G         p.160

          .         .         .         .         .  | 04      .    g.37049
 GTGGACTGGCAGTGGGAAGATCAAGATGGAGGAAATGGACGTAGGGGAAAG | GTAACAGAA    c.540
 V  D  W  Q  W  E  D  Q  D  G  G  N  G  R  R  G  K   | V  T  E      p.180

          .         .         .         .         .         .       g.37109
 ATCCAGGACTGGAGTGCATCAAGCCCACATAGCGCAGCATATGTCCTCTGGGATAATGGT       c.600
 I  Q  D  W  S  A  S  S  P  H  S  A  A  Y  V  L  W  D  N  G         p.200

          .         .         .       | 05 .         .         .    g.41543
 GCTAAGAACCTTTACAGAGTTGGCTTTGAGGGCATG | TCTGATCTGAAATGTGTCCAGGAT    c.660
 A  K  N  L  Y  R  V  G  F  E  G  M   | S  D  L  K  C  V  Q  D      p.220

          .         .         .         .    | 06    .         .    g.42914
 GCCAAGGGAGGTTCTTTCTACAGAGATCACTGCCCTGTGCTAG | GTGAGCAGAATGGCAAC    c.720
 A  K  G  G  S  F  Y  R  D  H  C  P  V  L  G |   E  Q  N  G  N      p.240

          .         .         .         .         .         .       g.42974
 AGGAATCCTGGTGGATTGCAGATTGGTGACCTGGTAAATATAGATCTCGACCTCGAAATT       c.780
 R  N  P  G  G  L  Q  I  G  D  L  V  N  I  D  L  D  L  E  I         p.260

          .         .         .         .         .         .       g.43034
 GTACAGTCTTTGCAGCATGGTCATGGAGGATGGACTGATGGAATGTTTGAGACTTTAACT       c.840
 V  Q  S  L  Q  H  G  H  G  G  W  T  D  G  M  F  E  T  L  T         p.280

          .         .         .         .         .         .       g.43094
 ACAACTGGAACTGTTTGTGGCATTGATGAAGATCATGACATTGTAGTACAGTATCCAAGT       c.900
 T  T  G  T  V  C  G  I  D  E  D  H  D  I  V  V  Q  Y  P  S         p.300

          | 07         .         .         .         .         .    g.54842
 GGCAATAG | GTGGACCTTCAATCCTGCTGTTCTCACTAAAGCGAACATTGTCCGAAGTGGA    c.960
 G  N  R  |  W  T  F  N  P  A  V  L  T  K  A  N  I  V  R  S  G      p.320

          .         .         .         .         .         .       g.54902
 GATGCTGCTCAGGGTGCAGAAGGAGGCACCTCGCAGTTTCAAGTGGGTGATCTTGTACAA       c.1020
 D  A  A  Q  G  A  E  G  G  T  S  Q  F  Q  V  G  D  L  V  Q         p.340

          .         .         .         .         .         .       g.54962
 GTTTGTTATGACCTGGAACGAATTAAACTTCTACAAAGAGGACATGGAGAATGGGCTGAA       c.1080
 V  C  Y  D  L  E  R  I  K  L  L  Q  R  G  H  G  E  W  A  E         p.360

          .   | 08     .         .         .         .         .    g.61548
 GCGATGCTTCCA | ACTTTAGGTAAAGTTGGCCGAGTACAACAGATTTATTCAGACAGTGAT    c.1140
 A  M  L  P   | T  L  G  K  V  G  R  V  Q  Q  I  Y  S  D  S  D      p.380

          .         .         .         .         .         .       g.61608
 TTAAAGGTGGAAGTTTGTGGAACATCTTGGACATACAATCCAGCAGCAGTTTCCAAGGTG       c.1200
 L  K  V  E  V  C  G  T  S  W  T  Y  N  P  A  A  V  S  K  V         p.400

          .         .         .        | 09.         .         .    g.63280
 GCATCTGCAGGATCAGCCATTAGCAATGCATCTGGTG | AAAGACTCTCACAACTCCTGAAG    c.1260
 A  S  A  G  S  A  I  S  N  A  S  G  E |   R  L  S  Q  L  L  K      p.420

          .         .         .         .         .         .       g.63340
 AAATTATTTGAAACCCAAGAATCTGGTGACCTCAATGAAGAATTAGTTAAGGCTGCTGCC       c.1320
 K  L  F  E  T  Q  E  S  G  D  L  N  E  E  L  V  K  A  A  A         p.440

          .         .         .         .         .  | 10      .    g.67332
 AATGGAGATGTTGCTAAAGTGGAAGATTTGCTTAAAAGACCAGATGTGGAT | GTAAATGGG    c.1380
 N  G  D  V  A  K  V  E  D  L  L  K  R  P  D  V  D   | V  N  G      p.460

          .         .         .         .         .         .       g.67392
 CAATGTGCTGGCCACACAGCTATGCAAGCTGCTAGTCAGAATGGACATGTTGACATTTTG       c.1440
 Q  C  A  G  H  T  A  M  Q  A  A  S  Q  N  G  H  V  D  I  L         p.480

          .         .         .          | 11        .         .    g.79053
 AAGTTACTTTTGAAGCAAAACGTGGATGTCGAAGCAGAG | GATAAAGATGGTGATAGAGCA    c.1500
 K  L  L  L  K  Q  N  V  D  V  E  A  E   | D  K  D  G  D  R  A      p.500

          .         .         .         .         .         .       g.79113
 GTTCACCATGCAGCTTTTGGAGATGAAGGCGCTGTTATAGAAGTACTACATCGAGGTAGT       c.1560
 V  H  H  A  A  F  G  D  E  G  A  V  I  E  V  L  H  R  G  S         p.520

          .         .         .         .         .         .       g.79173
 GCTGATTTGAATGCTCGAAACAAGCGCCGACAGACACCACTTCATATTGCTGTCAATAAA       c.1620
 A  D  L  N  A  R  N  K  R  R  Q  T  P  L  H  I  A  V  N  K         p.540

          .         .         .         .         .        | 12.    g.82914
 GGTCATCTTCAAGTTGTGAAGACTTTATTGGACTTTGGCTGTCATCCCAGTCTCCAG | GAT    c.1680
 G  H  L  Q  V  V  K  T  L  L  D  F  G  C  H  P  S  L  Q   | D      p.560

          .         .         .         .         .         .       g.82974
 TCTGAAGGTGATACCCCTCTTCATGATGCAATAAGTAAGAAACGTGATGATATCCTAGCA       c.1740
 S  E  G  D  T  P  L  H  D  A  I  S  K  K  R  D  D  I  L  A         p.580

          .         .         .         .         .         .       g.83034
 GTTCTTTTGGAAGCTGGAGCAGATGTTACCATCACAAACAATAATGGATTTAATGCTCTG       c.1800
 V  L  L  E  A  G  A  D  V  T  I  T  N  N  N  G  F  N  A  L         p.600

          .         .          | 13        .         .         .    g.101812
 CATCATGCTGCACTAAGGGGAAATCCCAG | TGCAATGCGTGTTTTACTATCTAAATTACCA    c.1860
 H  H  A  A  L  R  G  N  P  S  |  A  M  R  V  L  L  S  K  L  P      p.620

          .         .         .         .         .         .       g.101872
 AGACCATGGATTGTGGATGAGAAGAAAGATGATGGTTATACTGCCTTACATCTGGCTGCC       c.1920
 R  P  W  I  V  D  E  K  K  D  D  G  Y  T  A  L  H  L  A  A         p.640

          .         .         .         .   | 14     .         .    g.106565
 CTTAATAATCACGTAGAAGTGGCTGAACTGTTGGTACATCAG | GGTAATGCAAACCTGGAT    c.1980
 L  N  N  H  V  E  V  A  E  L  L  V  H  Q   | G  N  A  N  L  D      p.660

          .         .         .         .         .         .       g.106625
 ATCCAGAATGTGAACCAACAAACTGCCCTACACCTTGCTGTTGAACGACAGCATACCCAG       c.2040
 I  Q  N  V  N  Q  Q  T  A  L  H  L  A  V  E  R  Q  H  T  Q         p.680

           | 15        .         .         .         .         .    g.107559
 ATTGTTAGG | CTTTTGGTCCGTGCAGGTGCCAAGCTTGATATTCAGGATAAGGATGGGGAT    c.2100
 I  V  R   | L  L  V  R  A  G  A  K  L  D  I  Q  D  K  D  G  D      p.700

          .         .         .         .         .         .       g.107619
 ACTCCTTTGCATGAAGCTCTAAGGCATCACACTTTGTCTCAGCTACGTCAGCTCCAAGAT       c.2160
 T  P  L  H  E  A  L  R  H  H  T  L  S  Q  L  R  Q  L  Q  D         p.720

          .         .         .         .         .  | 16      .    g.110369
 ATGCAAGATGTGGGGAAGGTGGATGCTGCCTGGGAGCCATCCAAAAACACG | TTAATAATG    c.2220
 M  Q  D  V  G  K  V  D  A  A  W  E  P  S  K  N  T   | L  I  M      p.740

          .         .         .         .         .         .       g.110429
 GGACTTGGTACCCAGGGGGCAGAGAAGAAGAGTGCAGCATCTATTGCCTGTTTCTTGGCA       c.2280
 G  L  G  T  Q  G  A  E  K  K  S  A  A  S  I  A  C  F  L  A         p.760

          .         .         .         .         .         .       g.110489
 GCCAATGGTGCTGACCTGAGCATTCGAAATAAGAAGGGTCAATCGCCACTTGATCTCTGT       c.2340
 A  N  G  A  D  L  S  I  R  N  K  K  G  Q  S  P  L  D  L  C         p.780

          .         .         .         .         .    | 17    .    g.112619
 CCTGATCCGAATCTCTGCAAAGCACTGGCAAAGTGTCATAAGGAAAAAGTCAG | TGGTCAA    c.2400
 P  D  P  N  L  C  K  A  L  A  K  C  H  K  E  K  V  S  |  G  Q      p.800

          .         .         .         .         .         .       g.112679
 GTGGGTTCTCGGAGTCCTTCTATGATTAGTAATGATTCTGAAACCTTAGAAGAGTGTATG       c.2460
 V  G  S  R  S  P  S  M  I  S  N  D  S  E  T  L  E  E  C  M         p.820

          .         .         .         .         .         .       g.112739
 GTGTGCTCAGATATGAAGAGAGATACTCTTTTTGGTCCATGTGGACATATTGCTACCTGT       c.2520
 V  C  S  D  M  K  R  D  T  L  F  G  P  C  G  H  I  A  T  C         p.840

          .         .         .         .         .         .       g.112799
 TCTTTATGTTCTCCACGTGTCAAGAAATGCCTCATCTGTAAAGAACAGGTTCAATCCAGG       c.2580
 S  L  C  S  P  R  V  K  K  C  L  I  C  K  E  Q  V  Q  S  R         p.860

        | 18 .         .         .         .         .         .    g.116610
 ACAAAG | ATTGAAGAATGTGTGGTATGCTCTGACAAGAAAGCAGCTGTTCTTTTTCAACCC    c.2640
 T  K   | I  E  E  C  V  V  C  S  D  K  K  A  A  V  L  F  Q  P      p.880

          .         .      | 19  .         .         .         .    g.120581
 TGTGGCCACATGTGTGCTTGTGAGA | ACTGTGCTAACCTGATGAAAAAGTGTGTGCAGTGT    c.2700
 C  G  H  M  C  A  C  E  N |   C  A  N  L  M  K  K  C  V  Q  C      p.900

          .         .         .         .         .         .       g.120641
 CGAGCAGTAGTTGAACGAAGAGTGCCTTTCATTATGTGCTGTGGAGGGAAAAGTTCAGAA       c.2760
 R  A  V  V  E  R  R  V  P  F  I  M  C  C  G  G  K  S  S  E         p.920

          .          | 20        .         .         .         .    g.122003
 GATGCCACTGATGATATCT | CAAGTGGGAATATTCCAGTATTACAAAAGGACAAGGATAAT    c.2820
 D  A  T  D  D  I  S |   S  G  N  I  P  V  L  Q  K  D  K  D  N      p.940

          .         .         .         .         .         .       g.122063
 ACCAATGTCAATGCAGATGTGCAAAAGTTGCAGCAACAGTTACAAGACATTAAAGAGCAG       c.2880
 T  N  V  N  A  D  V  Q  K  L  Q  Q  Q  L  Q  D  I  K  E  Q         p.960

  | 21       .         .         .         .         .         .    g.128002
  | ACAATGTGCCCTGTGTGTCTAGATCGTCTGAAGAATATGATTTTCCTTTGTGGTCACGGA    c.2940
  | T  M  C  P  V  C  L  D  R  L  K  N  M  I  F  L  C  G  H  G      p.980

          .         .         .         .         .         .       g.128062
 ACCTGTCAACTCTGTGGAGACCGCATGAGTGAATGTCCTATCTGTCGCAAGGCTATTGAA       c.3000
 T  C  Q  L  C  G  D  R  M  S  E  C  P  I  C  R  K  A  I  E         p.1000

          .         .                                               g.128083
 CGAAGGATTCTTTTGTATTAA                                              c.3021
 R  R  I  L  L  Y  X                                                p.1006

          .         .         .         .         .         .       g.128143
 ctaagacacatggtgtattttgttagctaatgtatctagtcatgagatcttaataggctt       c.*60

          .         .         .         .         .         .       g.128203
 ttgatctagttggaagttctgatgagttaatttctaatatcatagtttctttactagagt       c.*120

          .         .         .         .         .         .       g.128263
 ataattgggctgtaaatgtaccagaacaaaaaaccctacaaaatggtgttggaaattgtg       c.*180

          .         .         .         .         .         .       g.128323
 ttttttgtttttgttttaaatttgaaacatcaaattcatgtaactcataggataatttac       c.*240

          .         .         .         .         .         .       g.128383
 ctttggcttctaagaggaaagtcctttaaggatatccttttttaaaaaattgcatttttc       c.*300

          .         .         .         .         .         .       g.128443
 tcttataatttgtaaatttgttggatctcaaaagacataattctttgtgatcagttatcc       c.*360

          .         .         .         .         .         .       g.128503
 ttcatttcatcgtggttttacacagtgagttgataacaggttctctgagaagtcatgcat       c.*420

          .         .         .         .         .         .       g.128563
 caaataaaagaggcaggtcaaacaattatgtcacatggtaaattataaaatgacagtaca       c.*480

          .         .         .         .         .         .       g.128623
 agttccagatagttaagggaataccgaagggatgattctttttttaagataacaggaagt       c.*540

          .         .         .         .         .         .       g.128683
 tacccacatgtttgtttctgaattcttagagtaaatggaagcatagaatgagggaataat       c.*600

          .         .         .         .         .         .       g.128743
 gactttgcatttctcttgttttctagattcaaaaggaacattgtttaacttgaatcagat       c.*660

          .         .         .         .         .         .       g.128803
 taccagtttcaaggtgactgatagacaagaaaaggaaaaataagcaataatagtgggcaa       c.*720

          .         .         .         .         .         .       g.128863
 ctgaagagaaaaaaaaaacgagtatctattaactggccactaacagttgcctttcttaca       c.*780

          .         .         .         .         .         .       g.128923
 ttaatttatacactattttgttcagccagtgtttttaaaaaaaatctatgaaaagtgtac       c.*840

          .         .         .         .         .         .       g.128983
 ttccggttttctgtgattacttatctgggcttgatctgaccagtgaaatgacattgccct       c.*900

          .         .         .         .         .         .       g.129043
 atttggacctctgaggttctatttagctttgcagatgtacatagtatcccagtgatctgc       c.*960

          .         .         .         .         .         .       g.129103
 aaaattaatgccttttccaagaaaaaatcttttcttctctgtatcagttaattctgacag       c.*1020

          .         .         .         .         .         .       g.129163
 tgttagtgattctgtcttcattataggccttatttccattatctctttctttatagtatt       c.*1080

          .         .         .         .         .         .       g.129223
 ttttgttataaagaaaacagtctttctgtgtatacctacggatgagggtattatttaaac       c.*1140

          .         .         .         .         .         .       g.129283
 tgccaacaatatccaagacatggtcaataacctaattataaatactttagaaagagtgac       c.*1200

          .         .         .         .         .         .       g.129343
 caggacatgtatagaaatgtctgcttacctgtagactttaaaaacaaacaaaatttttgg       c.*1260

          .         .         .         .         .         .       g.129403
 agcatttaatcattttttttctccttttatctcctttgtaatcttattgtctcctgagta       c.*1320

          .         .         .         .         .         .       g.129463
 aatatacacataaatgtttggggattcattgctgctagattatatcaggtgtttacatag       c.*1380

          .         .         .         .         .         .       g.129523
 tgtctactatatgctgttgataagctttttcctaaaaatagttatcctcttttgtagttt       c.*1440

          .         .         .         .         .         .       g.129583
 ttttccctcctttaaatctggctagcttttcttacttcagtttttatagaacaccaacta       c.*1500

          .         .         .         .         .         .       g.129643
 aatttgaaagtatgaagtctctagccctcttacactgtttctggctgtttaatccttgct       c.*1560

          .         .         .         .         .         .       g.129703
 gcctttgcaagtcctggtgaaagcaatggggagctttgctggctggttttgtagtctcaa       c.*1620

          .         .         .         .         .         .       g.129763
 caattccatgtctgtgtttagctgagtaactgctatcatttagaacagtaaaatttttat       c.*1680

          .         .         .         .         .         .       g.129823
 agatttcaaatttgaaaattcatgtacactcagttatctaataaggggccaccgacgctg       c.*1740

          .         .         .         .         .         .       g.129883
 tttttaaaactattttgaagttataaaaaggtagaacatctgactgatgatgttcacata       c.*1800

          .         .         .         .         .         .       g.129943
 aagagacagacagactatcatgttgcagacatgaaaacagcatgtcaggtttttcctttc       c.*1860

          .         .         .         .         .         .       g.130003
 cttccatgccatgggctacccatctcttcccactagatcacctggtgaggagggagcacc       c.*1920

          .         .         .         .         .         .       g.130063
 tggctgactcatgcagagtttggccaatcagagaattgtgtggtctccagctctactttc       c.*1980

          .         .         .         .         .         .       g.130123
 cttaaacaaatcctttctgttttctgagctgcagtgctaaaacagatccctaaaaggtaa       c.*2040

          .         .         .         .         .         .       g.130183
 tagcatcttccagactagtttaattatttcctttataagaatatgacataaatttttatt       c.*2100

          .         .         .         .         .         .       g.130243
 atagaaataatgtcattataattttagtgctagtacttgtgggttttctgtatttgtatc       c.*2160

          .         .         .         .         .         .       g.130303
 accttgaaatttgttccatgaatagaaaatacttctttattcatgttttcaatcacttag       c.*2220

          .         .         .         .         .         .       g.130363
 aattattttaaatttattttgggtttgtgagagataataagattaagaacttcatcattt       c.*2280

          .         .         .         .         .         .       g.130423
 cagtgactttcctccaactctctgaatctgctacctcttattatatgtcccttagcagta       c.*2340

          .         .         .         .         .         .       g.130483
 cttttccagttaggttcgttaccctgctcattagctaaacctctttatcttgtgcctcaa       c.*2400

          .         .         .         .         .         .       g.130543
 aagagcttttacttttcttagaaacatttataaaaaagaaaaaaactgacacgcattcat       c.*2460

          .         .         .         .         .         .       g.130603
 tcaaaaaagtatttattgggctttagggattagatacacaacagtggaaaaatggcatct       c.*2520

          .         .         .         .         .         .       g.130663
 tagcacactcagaatttattgtgcagcagttgtgtattttaaggaatctgtagttaaaag       c.*2580

          .         .         .         .         .         .       g.130723
 gaagagatccaaaggtcctgataacatttcctaacgtttcagaagagttgtcattgagta       c.*2640

          .         .         .         .         .         .       g.130783
 gtgtttggatttcctctctgtatccctcaccctaccattttctcctttattcttctaaga       c.*2700

          .         .         .         .         .         .       g.130843
 ttgttagcgttgttactcaaaacatacacatacaacataccagatggtgctgttctaatg       c.*2760

          .         .         .         .         .         .       g.130903
 gtatttgttcacgtaatttaacgttcttactgcttatactatatacatatttaattttgt       c.*2820

          .         .         .         .         .         .       g.130963
 tgggagcaagaaggttttcaagaaaagataattttgtattagtgtaggaatatattagac       c.*2880

          .         .         .         .         .         .       g.131023
 aaatgtttagttggtcaaattatgcataagatatttgtaactttaaacattgcaaattga       c.*2940

          .         .         .         .         .         .       g.131083
 ccagctagctatggaagcataaaattaattgataattaatgttggaaatacatttctaaa       c.*3000

          .         .         .         .         .         .       g.131143
 atttatatttttatggtgttagcctgtaagagcattttagcatattgaaatgcatgctgc       c.*3060

          .         .         .         .         .         .       g.131203
 ttaagatgtgtctggttcaaatatcaaaacttgctgggtcatttttacatagtagaaaca       c.*3120

          .         .         .         .         .         .       g.131263
 tactgtctatgtgttgcccaattgctgtttgtccactctgaattctggaccctttttgga       c.*3180

          .         .         .         .         .         .       g.131323
 ctaagaattagttaaattcatgaactaagagaattagagatggggtagagtaggatcagg       c.*3240

          .         .         .         .         .         .       g.131383
 acagtggggttacaacagataggaaaggaaagtcagcatttgagtgtagagaaaaaaaga       c.*3300

          .         .         .         .         .         .       g.131443
 ggatcatacagatgtcatcaaattataggctttaatacaggttgctttttttaatccaaa       c.*3360

          .         .         .         .         .         .       g.131503
 aggaaaagcacttatcctatcagaatgtctaccatgttttatagtaataatttgtgtaaa       c.*3420

          .         .         .         .         .         .       g.131563
 aaattgaatttttgaatagttttttgtattttttgtgatgaaaaactcataacataaaat       c.*3480

          .         .         .         .         .         .       g.131623
 ttaccatattaactgtttctaaagaatacagttcagccatgtgaagtacatttacactgt       c.*3540

          .         .         .         .         .         .       g.131683
 tgtgaagcagatctccagaactttttcatcttgcaaaactgaaactccatacccattaaa       c.*3600

          .         .         .         .         .         .       g.131743
 caactcccctttttgttttctcctcagtggaatagaattttgactccatataaatcaaga       c.*3660

          .         .         .         .         .         .       g.131803
 aacacctaaattctttagttgtttgtgtttgcaagatctaaggtcatggtaaacattaag       c.*3720

          .         .         .         .         .         .       g.131863
 ttcttaaaatttttgggagggacagtgcacctctcctctgaattgttagcaattaaattg       c.*3780

          .         .         .         .         .         .       g.131923
 agtaggttttaaatgtctattcattggaagggtttgttatttcattttgagccagagggg       c.*3840

          .         .         .         .         .         .       g.131983
 agaggcacattttaaatatcagaattagattagctttgagtttgtacaattgggaacata       c.*3900

          .         .         .         .         .         .       g.132043
 atagattttcataaattatgtgtgccttgttggaagtgtcaactgtctttatgtctgctt       c.*3960

          .         .         .         .         .         .       g.132103
 gtaaaagtttcaaaatatgttttccctcaaaaaggcaacgttacttcatttgcttgaata       c.*4020

          .         .         .         .         .         .       g.132163
 ttatgataggaatgcttactgatattacttgatagtcatatatagcctaggaaatttaac       c.*4080

          .         .         .         .         .         .       g.132223
 atatatataactatagcagtattaataatgatagttgtacttctttaaaacattaaattt       c.*4140

          .         .         .         .         .         .       g.132283
 gaggaaactttaatgctgtctcgtgtacattgctttactacagtgagggggaatatcctt       c.*4200

          .         .         .         .         .         .       g.132343
 tagattgagcctcaatttactggttagtagtatgtgaaactctggtataaaaacgtaaac       c.*4260

          .         .         .         .         .         .       g.132403
 tagacagtagagccgatgaattaaaattgtaaattgctacattggcattttctacctcct       c.*4320

          .         .         .         .         .         .       g.132463
 tttctgtcagagtattactttttccagcatttattcttatttgtgagtaaagaggaaatg       c.*4380

          .         .         .         .         .         .       g.132523
 ggaacctgaggttaaaattgacatttttgtttcattgagaatttaagcagtaggtacagg       c.*4440

          .         .         .         .         .         .       g.132583
 agaagtgacttgtcacattaatttggtgcctaaatctgtaactacaagttgtgatcgaca       c.*4500

          .         .         .         .         .         .       g.132643
 tgtacaaaatgtctaagaaaggtcatatgctgaatattttacttttcctgtatagtctgc       c.*4560

          .         .         .         .         .         .       g.132703
 atgatttgtttcataaacccagcttatttcctccaaaaagcaaaatggtcctgtaatttt       c.*4620

          .         .         .         .         .         .       g.132763
 taaagtaaaataaacgtgccattttgtctgcaatctataatttcaggaagttattgaaag       c.*4680

          .         .         .         .         .         .       g.132823
 ttctgactcagggctttttaacagttcaagcaattgtcagttatattttggaaactccat       c.*4740

          .         .         .         .         .         .       g.132883
 ctgtgtaattctccagtgccttgaaagaattattaacttggcaacactattaaaacttta       c.*4800

          .         .         .         .         .         .       g.132943
 taaaagatggtctttagtgcacgtgtatcattatatacacgttttaaagtcatattgctt       c.*4860

          .         .         .         .         .         .       g.133003
 agcttgttaataatgattctgcatgtgtgctgggtttgggtaattctttaaaggaagttt       c.*4920

          .         .         .         .         .         .       g.133063
 tctagatttgcacttgatgtttgttttttaaaaactgattatttatggccgtgacactgt       c.*4980

          .         .         .         .         .         .       g.133123
 taccagaaaagtaattctaattaagttattatgcaaagtcatctataagtagcatctggg       c.*5040

          .         .         .         .         .         .       g.133183
 aagaggagatcgaggccacagtttgctattttagtatgaaaggaggatctgtttgggaaa       c.*5100

          .         .         .         .         .         .       g.133243
 catagattgtcttcccctcaaatgaggggaaaaaaaaaagaccctttgttcaaatggatt       c.*5160

          .         .         .         .         .         .       g.133303
 ctgttgtaaaaaattatttttaaaggaaatcacaaattgtatgtcattcttaatgctagt       c.*5220

          .         .         .         .         .         .       g.133363
 cttatagaataaatccataaaattgtttttatgttcagtatgtttatgtcattctaaatg       c.*5280

          .         .         .         .         .         .       g.133423
 cagcaaattcaatgatagcagttcaattgactcatagcagtgttttgtattttttctaat       c.*5340

          .         .         .         .         .         .       g.133483
 tctttagctttcaatattggattaaagtcttgtttgtgaatatagtttccgtatggcaaa       c.*5400

          .         .         .         .         .         .       g.133543
 tgatttcttgcttattagcttttgttaaagaatgcttagtaagagctaagcttttaaaag       c.*5460

          .         .         .         .         .         .       g.133603
 taatgcaaacatttatcgttaataaaacctatggtgtaatatcatataatgcttttcttt       c.*5520

          .         .         .         .         .         .       g.133663
 gatctttggagaattattcttttatagtagtatacatgaattttgatttttaaagcattt       c.*5580

          .         .         .         .         .         .       g.133723
 aaaaacaaatctcaatacattaaaaaacctgttattgttaaaaaggaaattaccatgcct       c.*5640

          .         .         .         .         .         .       g.133783
 ttaagaaacaaggatgtacatcttcaattcagcataagtgtccacatctagaaggctctc       c.*5700

          .         .         .         .         .         .       g.133843
 attgcagttgtttacagttaaggtacctctatctaaagggccaaagaagcatttcatatt       c.*5760

          .         .         .         .         .         .       g.133903
 ttaacacctcacattctttcaggattaagacatatgaaaatagtctgaataggataaatt       c.*5820

          .         .         .         .         .         .       g.133963
 tgataggaagtaacttaaccagtctggaagattcagctttttctataaaaagcttattcc       c.*5880

          .         .         .         .         .         .       g.134023
 tcttcacaactcagatgtagatttcattttcaagaggtagatattttaaagcaatgatct       c.*5940

          .         .         .         .         .         .       g.134083
 atttgggttttagttttatgagtaaatcattaattgtatggtttgggggttattttattt       c.*6000

          .         .         .         .         .         .       g.134143
 tccatgttaatataagcacttatttctgaagttattgagaggtcatctagctccagttca       c.*6060

          .         .         .         .         .         .       g.134203
 aaagattatgtatatctgatgtttaagaggaaaaacatctgaaaaaatatcttttgttta       c.*6120

          .         .         .         .         .         .       g.134263
 tttgaaaaaagcatatatattccaactttaaaattgtgaatttattttgagtaacctcta       c.*6180

          .         .         .         .         .         .       g.134323
 attaactgtatttttttgtttctgttgctgtatagttagaaatttcatggcaatattttt       c.*6240

          .         .         .         .         .                 g.134374
 tactaaattgaaactataggttttaaaaataaagacattttagaaaatttg                c.*6291

 (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 Mindbomb 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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